Canonical Allele Identifier: CA228310

Gene: VWF

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6121182G>T , CM000674.2:g.6121182G>T	GRCh38
NC_000012.11:g.6230348G>T , CM000674.1:g.6230348G>T	GRCh37
NC_000012.10:g.6100609G>T	NCBI36
NG_009072.1:g.8489C>A
NG_009072.2:g.8489C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000552.5:c.212C>A MANE Select	NP_000543.3:p.Ser71Ter
ENST00000261405.10:c.212C>A MANE Select	ENSP00000261405.5:p.Ser71Ter
NM_000552.3:c.212C>A	NP_000543.2:p.Ser71Ter
NM_000552.4:c.212C>A	NP_000543.2:p.Ser71Ter
ENST00000261405.9:c.212C>A	ENSP00000261405.5:p.Ser71Ter
ENST00000321023.5:c.*271C>A	ENSP00000461331.1:n.*271C>A
ENST00000538563.1:c.*271C>A	ENSP00000459134.1:n.*271C>A
ENST00000538635.5:n.241C>A