Canonical Allele Identifier: CA114166
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 312
ClinVar RCV Id: RCV000000340 RCV000086607
dbSNP Id: rs61748478
gnomAD v4: 12-6044349-T-C
MyVariant Identifiers: chr12:g.6153515T>C (hg19) chr12:g.6044349T>C (hg38)
PubMed: PMID:15461624
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6044349T>C , CM000674.2:g.6044349T>C GRCh38
NC_000012.11:g.6153515T>C , CM000674.1:g.6153515T>C GRCh37
NC_000012.10:g.6023776T>C NCBI36
NG_009072.1:g.85322A>G
NG_009072.2:g.85322A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2384A>G MANE Select ENSP00000261405.5:p.Tyr795Cys
ENST00000261405.9:c.2384A>G ENSP00000261405.5:p.Tyr795Cys
ENST00000538635.5:n.421-50415A>G
NM_000552.3:c.2384A>G NP_000543.2:p.Tyr795Cys
NM_000552.4:c.2384A>G NP_000543.2:p.Tyr795Cys
NM_000552.5:c.2384A>G MANE Select NP_000543.3:p.Tyr795Cys
Search 100 bp 5'
Search 100 bp 3'