Canonical Allele Identifier: CA383511014

Gene: VWF

Linked Data

• MyVariant Identifiers: chr12:g.6131186T>A (hg19) ; chr12:g.6022020T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022020T>A , CM000674.2:g.6022020T>A	GRCh38
NC_000012.11:g.6131186T>A , CM000674.1:g.6131186T>A	GRCh37
NC_000012.10:g.6001447T>A	NCBI36
NG_009072.1:g.107651A>T
NG_009072.2:g.107651A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.3554A>T MANE Select	ENSP00000261405.5:p.Glu1185Val
ENST00000261405.9:c.3554A>T	ENSP00000261405.5:p.Glu1185Val
ENST00000538635.5:n.421-28086A>T
NM_000552.3:c.3554A>T	NP_000543.2:p.Glu1185Val
NM_000552.4:c.3554A>T	NP_000543.2:p.Glu1185Val
NM_000552.5:c.3554A>T MANE Select	NP_000543.3:p.Glu1185Val