Canonical Allele Identifier: CA232281520

Gene: VWF

Linked Data

• dbSNP Id: rs949458273
• MyVariant Identifiers: chr12:g.6078135T>C (hg19) ; chr12:g.5968969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5968969T>C , CM000674.2:g.5968969T>C	GRCh38
NC_000012.11:g.6078135T>C , CM000674.1:g.6078135T>C	GRCh37
NC_000012.10:g.5948396T>C	NCBI36
NG_009072.1:g.160702A>G
NG_009072.2:g.160702A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.7729+242A>G MANE Select	ENSP00000261405.5:n.7729+242A>G
ENST00000261405.9:c.7729+242A>G	ENSP00000261405.5:n.7729+242A>G
NM_000552.3:c.7729+242A>G	NP_000543.2:n.7729+242A>G
NM_000552.4:c.7729+242A>G	NP_000543.2:n.7729+242A>G
NM_000552.5:c.7729+242A>G MANE Select	NP_000543.3:n.7729+242A>G