Canonical Allele Identifier: CA603103431

Gene: VWF

Linked Data

• dbSNP Id: rs1220558384
• gnomAD v2: 12-6153434-C-A
• gnomAD v3: 12-6044268-C-A
• gnomAD v4: 12-6044268-C-A
• MyVariant Identifiers: chr12:g.6153434C>A (hg19) ; chr12:g.6044268C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6044268C>A , CM000674.2:g.6044268C>A	GRCh38
NC_000012.11:g.6153434C>A , CM000674.1:g.6153434C>A	GRCh37
NC_000012.10:g.6023695C>A	NCBI36
NG_009072.1:g.85403G>T
NG_009072.2:g.85403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2442+23G>T MANE Select	ENSP00000261405.5:n.2442+23G>T
ENST00000261405.9:c.2442+23G>T	ENSP00000261405.5:n.2442+23G>T
ENST00000538635.5:n.421-50334G>T
NM_000552.3:c.2442+23G>T	NP_000543.2:n.2442+23G>T
NM_000552.4:c.2442+23G>T	NP_000543.2:n.2442+23G>T
NM_000552.5:c.2442+23G>T MANE Select	NP_000543.3:n.2442+23G>T