Canonical Allele Identifier: CA383495461

Gene: VWF

Linked Data

• MyVariant Identifiers: chr12:g.6125344C>T (hg19) ; chr12:g.6016178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016178C>T , CM000674.2:g.6016178C>T	GRCh38
NC_000012.11:g.6125344C>T , CM000674.1:g.6125344C>T	GRCh37
NC_000012.10:g.5995605C>T	NCBI36
NG_009072.1:g.113493G>A
NG_009072.2:g.113493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5366G>A MANE Select	ENSP00000261405.5:p.Arg1789Lys
ENST00000261405.9:c.5366G>A	ENSP00000261405.5:p.Arg1789Lys
ENST00000538635.5:n.421-22244G>A
NM_000552.3:c.5366G>A	NP_000543.2:p.Arg1789Lys
NM_000552.4:c.5366G>A	NP_000543.2:p.Arg1789Lys
NM_000552.5:c.5366G>A MANE Select	NP_000543.3:p.Arg1789Lys