Canonical Allele Identifier: CA383510734
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6131138A>T (hg19) chr12:g.6021972A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021972A>T , CM000674.2:g.6021972A>T GRCh38
NC_000012.11:g.6131138A>T , CM000674.1:g.6131138A>T GRCh37
NC_000012.10:g.6001399A>T NCBI36
NG_009072.1:g.107699T>A
NG_009072.2:g.107699T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3602T>A MANE Select ENSP00000261405.5:p.Val1201Glu
ENST00000261405.9:c.3602T>A ENSP00000261405.5:p.Val1201Glu
ENST00000538635.5:n.421-28038T>A
NM_000552.3:c.3602T>A NP_000543.2:p.Val1201Glu
NM_000552.4:c.3602T>A NP_000543.2:p.Val1201Glu
NM_000552.5:c.3602T>A MANE Select NP_000543.3:p.Val1201Glu
Search 100 bp 5'
Search 100 bp 3'