Canonical Allele Identifier: CA383498519
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6127579A>C (hg19) chr12:g.6018413A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018413A>C , CM000674.2:g.6018413A>C GRCh38
NC_000012.11:g.6127579A>C , CM000674.1:g.6127579A>C GRCh37
NC_000012.10:g.5997840A>C NCBI36
NG_009072.1:g.111258T>G
NG_009072.2:g.111258T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5005T>G MANE Select ENSP00000261405.5:p.Cys1669Gly
ENST00000261405.9:c.5005T>G ENSP00000261405.5:p.Cys1669Gly
ENST00000538635.5:n.421-24479T>G
NM_000552.3:c.5005T>G NP_000543.2:p.Cys1669Gly
NM_000552.4:c.5005T>G NP_000543.2:p.Cys1669Gly
NM_000552.5:c.5005T>G MANE Select NP_000543.3:p.Cys1669Gly
Search 100 bp 5'
Search 100 bp 3'