Canonical Allele Identifier: CA478501962

Gene: VWF

Linked Data

• dbSNP Id: rs1944090108
• gnomAD v4: 12-6018609-C-G
• MyVariant Identifiers: chr12:g.6127775C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018609C>G , CM000674.2:g.6018609C>G	GRCh38
NC_000012.11:g.6127775C>G , CM000674.1:g.6127775C>G	GRCh37
NC_000012.10:g.5998036C>G	NCBI36
NG_009072.1:g.111062G>C
NG_009072.2:g.111062G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.4809G>C MANE Select	ENSP00000261405.5:p.Leu1603=
ENST00000261405.9:c.4809G>C	ENSP00000261405.5:p.Leu1603=
ENST00000538635.5:n.421-24675G>C
NM_000552.3:c.4809G>C	NP_000543.2:p.Leu1603=
NM_000552.4:c.4809G>C	NP_000543.2:p.Leu1603=
NM_000552.5:c.4809G>C MANE Select	NP_000543.3:p.Leu1603=