Canonical Allele Identifier: CA478102967

Gene: VWF

Linked Data

• MyVariant Identifiers: chr12:g.6143889G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6034723G>A , CM000674.2:g.6034723G>A	GRCh38
NC_000012.11:g.6143889G>A , CM000674.1:g.6143889G>A	GRCh37
NC_000012.10:g.6014150G>A	NCBI36
NG_009072.1:g.94948C>T
NG_009072.2:g.94948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2650C>T MANE Select	ENSP00000261405.5:p.Leu884=
ENST00000261405.9:c.2650C>T	ENSP00000261405.5:p.Leu884=
ENST00000538635.5:n.421-40789C>T
NM_000552.3:c.2650C>T	NP_000543.2:p.Leu884=
NM_000552.4:c.2650C>T	NP_000543.2:p.Leu884=
NM_000552.5:c.2650C>T MANE Select	NP_000543.3:p.Leu884=