Canonical Allele Identifier: CA6402727
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs759769683
ExAC: 12:6131135 G / A
gnomAD v2: 12-6131135-G-A
gnomAD v4: 12-6021969-G-A
MyVariant Identifiers: chr12:g.6131135G>A (hg19) chr12:g.6021969G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021969G>A , CM000674.2:g.6021969G>A GRCh38
NC_000012.11:g.6131135G>A , CM000674.1:g.6131135G>A GRCh37
NC_000012.10:g.6001396G>A NCBI36
NG_009072.1:g.107702C>T
NG_009072.2:g.107702C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3605C>T MANE Select ENSP00000261405.5:p.Ala1202Val
ENST00000261405.9:c.3605C>T ENSP00000261405.5:p.Ala1202Val
ENST00000538635.5:n.421-28035C>T
NM_000552.3:c.3605C>T NP_000543.2:p.Ala1202Val
NM_000552.4:c.3605C>T NP_000543.2:p.Ala1202Val
NM_000552.5:c.3605C>T MANE Select NP_000543.3:p.Ala1202Val
Search 100 bp 5'
Search 100 bp 3'