Canonical Allele Identifier: CA6403326
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 801294
ClinVar RCV Id: RCV000986060 RCV003479258
dbSNP Id: rs139196998
ExAC: 12:6167131 G / A
gnomAD v2: 12-6167131-G-A
gnomAD v3: 12-6057965-G-A
gnomAD v4: 12-6057965-G-A
MyVariant Identifiers: chr12:g.6167131G>A (hg19) chr12:g.6057965G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057965G>A , CM000674.2:g.6057965G>A GRCh38
NC_000012.11:g.6167131G>A , CM000674.1:g.6167131G>A GRCh37
NC_000012.10:g.6037392G>A NCBI36
NG_009072.1:g.71706C>T
NG_009072.2:g.71706C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1613C>T MANE Select ENSP00000261405.5:p.Pro538Leu
ENST00000261405.9:c.1613C>T ENSP00000261405.5:p.Pro538Leu
ENST00000538635.5:n.420+52550C>T
NM_000552.3:c.1613C>T NP_000543.2:p.Pro538Leu
NM_000552.4:c.1613C>T NP_000543.2:p.Pro538Leu
NM_000552.5:c.1613C>T MANE Select NP_000543.3:p.Pro538Leu
Search 100 bp 5'
Search 100 bp 3'