Canonical Allele Identifier: CA478105764
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6181604T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6072438T>G , CM000674.2:g.6072438T>G GRCh38
NC_000012.11:g.6181604T>G , CM000674.1:g.6181604T>G GRCh37
NC_000012.10:g.6051865T>G NCBI36
NG_009072.1:g.57233A>C
NG_009072.2:g.57233A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1002A>C MANE Select ENSP00000261405.5:p.Gly334=
ENST00000261405.9:c.1002A>C ENSP00000261405.5:p.Gly334=
ENST00000538635.5:n.420+38077A>C
NM_000552.3:c.1002A>C NP_000543.2:p.Gly334=
NM_000552.4:c.1002A>C NP_000543.2:p.Gly334=
NM_000552.5:c.1002A>C MANE Select NP_000543.3:p.Gly334=