VariantValidator.org_v0.1.3

VariantValidator (current)
Batch Validator (current)
VCF to HGVS (current)
Web Services (current)
Gene to Transcripts (current)
Complex nomenclature (current)
External links
- hgvs and UTA
- hgvs 1.1.3
- Universal Transcript Archive (uta_20180821)
- HGVS nomenclature
- HGVS/varnomen
- Variant Databases
- Locus Specific Database list
- ClinVar
- COSMIC
- Reference Sequence Portals
- NCBI RefSeq
- Locus Reference Genomic
- ENSEMBL
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- Similar sites
- Mutalyzer
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Invalid variant description

Input variant description: NM_004797.4:c.-8-3963G>A

No transcript definition for (tx_ac=NM_004797.4)

Link to UTA Admin

Enter variant description in the HGVS format:

Examples:

NM_000088.3:c.589G>T
NC_000017.10:g.48275363C>A
NG_007400.1:g.8638G>T
LRG_1:g.8638G>T
LRG_1t1:c.589G>T
17-50198002-C-A
chr17:50198002C>A

Select Genome Build

GRCh38 GRCh37

Alignment method:

splign blat

Show exon boundary crossing