Canonical Allele Identifier: CA383517893

Gene: VWF

Linked Data

• MyVariant Identifiers: chr12:g.6140704A>G (hg19) ; chr12:g.6031538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031538A>G , CM000674.2:g.6031538A>G	GRCh38
NC_000012.11:g.6140704A>G , CM000674.1:g.6140704A>G	GRCh37
NC_000012.10:g.6010965A>G	NCBI36
NG_009072.1:g.98133T>C
NG_009072.2:g.98133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2726T>C MANE Select	ENSP00000261405.5:p.Val909Ala
ENST00000261405.9:c.2726T>C	ENSP00000261405.5:p.Val909Ala
ENST00000538635.5:n.421-37604T>C
NM_000552.3:c.2726T>C	NP_000543.2:p.Val909Ala
NM_000552.4:c.2726T>C	NP_000543.2:p.Val909Ala
NM_000552.5:c.2726T>C MANE Select	NP_000543.3:p.Val909Ala