Canonical Allele Identifier: CA2617233640

Gene: VWF

Linked Data

• gnomAD v4: 12-6072294-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6072294G>A , CM000674.2:g.6072294G>A	GRCh38
NC_000012.11:g.6181460G>A , CM000674.1:g.6181460G>A	GRCh37
NC_000012.10:g.6051721G>A	NCBI36
NG_009072.1:g.57377C>T
NG_009072.2:g.57377C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.1109+37C>T MANE Select	ENSP00000261405.5:n.1109+37C>T
ENST00000261405.9:c.1109+37C>T	ENSP00000261405.5:n.1109+37C>T
ENST00000538635.5:n.420+38221C>T
NM_000552.3:c.1109+37C>T	NP_000543.2:n.1109+37C>T
NM_000552.4:c.1109+37C>T	NP_000543.2:n.1109+37C>T
NM_000552.5:c.1109+37C>T MANE Select	NP_000543.3:n.1109+37C>T