Canonical Allele Identifier: CA383498161

Gene: VWF

Linked Data

• gnomAD v4: 12-6057921-A-G
• MyVariant Identifiers: chr12:g.6167087A>G (hg19) ; chr12:g.6057921A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6057921A>G , CM000674.2:g.6057921A>G	GRCh38
NC_000012.11:g.6167087A>G , CM000674.1:g.6167087A>G	GRCh37
NC_000012.10:g.6037348A>G	NCBI36
NG_009072.1:g.71750T>C
NG_009072.2:g.71750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1657T>C MANE Select	ENSP00000261405.5:p.Trp553Arg
ENST00000261405.9:c.1657T>C	ENSP00000261405.5:p.Trp553Arg
ENST00000538635.5:n.420+52594T>C
NM_000552.3:c.1657T>C	NP_000543.2:p.Trp553Arg
NM_000552.4:c.1657T>C	NP_000543.2:p.Trp553Arg
NM_000552.5:c.1657T>C MANE Select	NP_000543.3:p.Trp553Arg