Canonical Allele Identifier: CA6403568
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 310086
ClinVar RCV Id: RCV000261868 RCV000760106
dbSNP Id: rs71582884
ExAC: 12:6181529 G / A
gnomAD v2: 12-6181529-G-A
gnomAD v3: 12-6072363-G-A
gnomAD v4: 12-6072363-G-A
MyVariant Identifiers: chr12:g.6181529G>A (hg19) chr12:g.6072363G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6072363G>A , CM000674.2:g.6072363G>A GRCh38
NC_000012.11:g.6181529G>A , CM000674.1:g.6181529G>A GRCh37
NC_000012.10:g.6051790G>A NCBI36
NG_009072.1:g.57308C>T
NG_009072.2:g.57308C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.1077C>T MANE Select ENSP00000261405.5:p.Pro359=
ENST00000261405.9:c.1077C>T ENSP00000261405.5:p.Pro359=
ENST00000538635.5:n.420+38152C>T
NM_000552.3:c.1077C>T NP_000543.2:p.Pro359=
NM_000552.4:c.1077C>T NP_000543.2:p.Pro359=
NM_000552.5:c.1077C>T MANE Select NP_000543.3:p.Pro359=
Search 100 bp 5'
Search 100 bp 3'