Canonical Allele Identifier: CA2617229775

Gene: VWF

Linked Data

• gnomAD v4: 12-6018323-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018323C>A , CM000674.2:g.6018323C>A	GRCh38
NC_000012.11:g.6127489C>A , CM000674.1:g.6127489C>A	GRCh37
NC_000012.10:g.5997750C>A	NCBI36
NG_009072.1:g.111348G>T
NG_009072.2:g.111348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5053+42G>T MANE Select	ENSP00000261405.5:n.5053+42G>T
ENST00000261405.9:c.5053+42G>T	ENSP00000261405.5:n.5053+42G>T
ENST00000538635.5:n.421-24389G>T
NM_000552.3:c.5053+42G>T	NP_000543.2:n.5053+42G>T
NM_000552.4:c.5053+42G>T	NP_000543.2:n.5053+42G>T
NM_000552.5:c.5053+42G>T MANE Select	NP_000543.3:n.5053+42G>T