Canonical Allele Identifier: CA478102735

Gene: VWF

Linked Data

• gnomAD v4: 12-6031528-C-T
• MyVariant Identifiers: chr12:g.6140694C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031528C>T , CM000674.2:g.6031528C>T	GRCh38
NC_000012.11:g.6140694C>T , CM000674.1:g.6140694C>T	GRCh37
NC_000012.10:g.6010955C>T	NCBI36
NG_009072.1:g.98143G>A
NG_009072.2:g.98143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2736G>A MANE Select	ENSP00000261405.5:p.Lys912=
ENST00000261405.9:c.2736G>A	ENSP00000261405.5:p.Lys912=
ENST00000538635.5:n.421-37594G>A
NM_000552.3:c.2736G>A	NP_000543.2:p.Lys912=
NM_000552.4:c.2736G>A	NP_000543.2:p.Lys912=
NM_000552.5:c.2736G>A MANE Select	NP_000543.3:p.Lys912=