Canonical Allele Identifier: CA6402785
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs529227474
ExAC: 12:6132907 G / A
gnomAD v2: 12-6132907-G-A
gnomAD v3: 12-6023741-G-A
gnomAD v4: 12-6023741-G-A
MyVariant Identifiers: chr12:g.6132907G>A (hg19) chr12:g.6023741G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023741G>A , CM000674.2:g.6023741G>A GRCh38
NC_000012.11:g.6132907G>A , CM000674.1:g.6132907G>A GRCh37
NC_000012.10:g.6003168G>A NCBI36
NG_009072.1:g.105930C>T
NG_009072.2:g.105930C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3269C>T MANE Select ENSP00000261405.5:p.Ser1090Phe
ENST00000261405.9:c.3269C>T ENSP00000261405.5:p.Ser1090Phe
ENST00000538635.5:n.421-29807C>T
NM_000552.3:c.3269C>T NP_000543.2:p.Ser1090Phe
NM_000552.4:c.3269C>T NP_000543.2:p.Ser1090Phe
NM_000552.5:c.3269C>T MANE Select NP_000543.3:p.Ser1090Phe
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