Canonical Allele Identifier: CA478493954

Gene: VWF

Linked Data

• dbSNP Id: rs2136411431
• gnomAD v4: 12-6018393-C-T
• MyVariant Identifiers: chr12:g.6127559C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018393C>T , CM000674.2:g.6018393C>T	GRCh38
NC_000012.11:g.6127559C>T , CM000674.1:g.6127559C>T	GRCh37
NC_000012.10:g.5997820C>T	NCBI36
NG_009072.1:g.111278G>A
NG_009072.2:g.111278G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.5025G>A MANE Select	ENSP00000261405.5:p.Leu1675=
ENST00000261405.9:c.5025G>A	ENSP00000261405.5:p.Leu1675=
ENST00000538635.5:n.421-24459G>A
NM_000552.3:c.5025G>A	NP_000543.2:p.Leu1675=
NM_000552.4:c.5025G>A	NP_000543.2:p.Leu1675=
NM_000552.5:c.5025G>A MANE Select	NP_000543.3:p.Leu1675=