Canonical Allele Identifier: CA383520331

Gene: VWF

Linked Data

• COSMIC: COSM942330
• MyVariant Identifiers: chr12:g.6145582C>A (hg19) ; chr12:g.6036416C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6036416C>A , CM000674.2:g.6036416C>A	GRCh38
NC_000012.11:g.6145582C>A , CM000674.1:g.6145582C>A	GRCh37
NC_000012.10:g.6015843C>A	NCBI36
NG_009072.1:g.93255G>T
NG_009072.2:g.93255G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.2518G>T MANE Select	ENSP00000261405.5:p.Glu840Ter
ENST00000261405.9:c.2518G>T	ENSP00000261405.5:p.Glu840Ter
ENST00000538635.5:n.421-42482G>T
NM_000552.3:c.2518G>T	NP_000543.2:p.Glu840Ter
NM_000552.4:c.2518G>T	NP_000543.2:p.Glu840Ter
NM_000552.5:c.2518G>T MANE Select	NP_000543.3:p.Glu840Ter