Canonical Allele Identifier: CA383499242

Gene: VWF

Linked Data

• COSMIC: COSM1664975
• MyVariant Identifiers: chr12:g.6127788T>A (hg19) ; chr12:g.6018622T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018622T>A , CM000674.2:g.6018622T>A	GRCh38
NC_000012.11:g.6127788T>A , CM000674.1:g.6127788T>A	GRCh37
NC_000012.10:g.5998049T>A	NCBI36
NG_009072.1:g.111049A>T
NG_009072.2:g.111049A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4796A>T MANE Select	ENSP00000261405.5:p.Gln1599Leu
ENST00000261405.9:c.4796A>T	ENSP00000261405.5:p.Gln1599Leu
ENST00000538635.5:n.421-24688A>T
NM_000552.3:c.4796A>T	NP_000543.2:p.Gln1599Leu
NM_000552.4:c.4796A>T	NP_000543.2:p.Gln1599Leu
NM_000552.5:c.4796A>T MANE Select	NP_000543.3:p.Gln1599Leu