Canonical Allele Identifier: CA383517929

Gene: VWF

Linked Data

• MyVariant Identifiers: chr12:g.6140713C>G (hg19) ; chr12:g.6031547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031547C>G , CM000674.2:g.6031547C>G	GRCh38
NC_000012.11:g.6140713C>G , CM000674.1:g.6140713C>G	GRCh37
NC_000012.10:g.6010974C>G	NCBI36
NG_009072.1:g.98124G>C
NG_009072.2:g.98124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2717G>C MANE Select	ENSP00000261405.5:p.Arg906Pro
ENST00000261405.9:c.2717G>C	ENSP00000261405.5:p.Arg906Pro
ENST00000538635.5:n.421-37613G>C
NM_000552.3:c.2717G>C	NP_000543.2:p.Arg906Pro
NM_000552.4:c.2717G>C	NP_000543.2:p.Arg906Pro
NM_000552.5:c.2717G>C MANE Select	NP_000543.3:p.Arg906Pro