Canonical Allele Identifier: CA383486669

Gene: VWF

Linked Data

• MyVariant Identifiers: chr12:g.6058311C>G (hg19) ; chr12:g.5949145C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5949145C>G , CM000674.2:g.5949145C>G	GRCh38
NC_000012.11:g.6058311C>G , CM000674.1:g.6058311C>G	GRCh37
NC_000012.10:g.5928572C>G	NCBI36
NG_009072.1:g.180526G>C
NG_009072.2:g.180526G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.8312G>C MANE Select	ENSP00000261405.5:p.Cys2771Ser
ENST00000261405.9:c.8312G>C	ENSP00000261405.5:p.Cys2771Ser
NM_000552.3:c.8312G>C	NP_000543.2:p.Cys2771Ser
NM_000552.4:c.8312G>C	NP_000543.2:p.Cys2771Ser
NM_000552.5:c.8312G>C MANE Select	NP_000543.3:p.Cys2771Ser