Canonical Allele Identifier: CA603483045

Gene: VWF

Linked Data

• dbSNP Id: rs1240604399
• gnomAD v2: 12-6132777-A-G
• gnomAD v4: 12-6023611-A-G
• MyVariant Identifiers: chr12:g.6132777A>G (hg19) ; chr12:g.6023611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023611A>G , CM000674.2:g.6023611A>G	GRCh38
NC_000012.11:g.6132777A>G , CM000674.1:g.6132777A>G	GRCh37
NC_000012.10:g.6003038A>G	NCBI36
NG_009072.1:g.106060T>C
NG_009072.2:g.106060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3379+20T>C MANE Select	ENSP00000261405.5:n.3379+20T>C
ENST00000261405.9:c.3379+20T>C	ENSP00000261405.5:n.3379+20T>C
ENST00000538635.5:n.421-29677T>C
NM_000552.3:c.3379+20T>C	NP_000543.2:n.3379+20T>C
NM_000552.4:c.3379+20T>C	NP_000543.2:n.3379+20T>C
NM_000552.5:c.3379+20T>C MANE Select	NP_000543.3:n.3379+20T>C