Canonical Allele Identifier: CA2617232742

Gene: VWF

Linked Data

• gnomAD v4: 12-6058143-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6058143C>A , CM000674.2:g.6058143C>A	GRCh38
NC_000012.11:g.6167309C>A , CM000674.1:g.6167309C>A	GRCh37
NC_000012.10:g.6037570C>A	NCBI36
NG_009072.1:g.71528G>T
NG_009072.2:g.71528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1534-99G>T MANE Select	ENSP00000261405.5:n.1534-99G>T
ENST00000261405.9:c.1534-99G>T	ENSP00000261405.5:n.1534-99G>T
ENST00000538635.5:n.420+52372G>T
NM_000552.3:c.1534-99G>T	NP_000543.2:n.1534-99G>T
NM_000552.4:c.1534-99G>T	NP_000543.2:n.1534-99G>T
NM_000552.5:c.1534-99G>T MANE Select	NP_000543.3:n.1534-99G>T