Canonical Allele Identifier: CA6403070

Gene: VWF

Linked Data

• dbSNP Id: rs759780845
• ExAC: 12:6153444 C / T
• gnomAD v2: 12-6153444-C-T
• gnomAD v4: 12-6044278-C-T
• MyVariant Identifiers: chr12:g.6153444C>T (hg19) ; chr12:g.6044278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6044278C>T , CM000674.2:g.6044278C>T	GRCh38
NC_000012.11:g.6153444C>T , CM000674.1:g.6153444C>T	GRCh37
NC_000012.10:g.6023705C>T	NCBI36
NG_009072.1:g.85393G>A
NG_009072.2:g.85393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2442+13G>A MANE Select	ENSP00000261405.5:n.2442+13G>A
ENST00000261405.9:c.2442+13G>A	ENSP00000261405.5:n.2442+13G>A
ENST00000538635.5:n.421-50344G>A
NM_000552.3:c.2442+13G>A	NP_000543.2:n.2442+13G>A
NM_000552.4:c.2442+13G>A	NP_000543.2:n.2442+13G>A
NM_000552.5:c.2442+13G>A MANE Select	NP_000543.3:n.2442+13G>A