Canonical Allele Identifier: CA383520327
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6145580T>G (hg19) chr12:g.6036414T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036414T>G , CM000674.2:g.6036414T>G GRCh38
NC_000012.11:g.6145580T>G , CM000674.1:g.6145580T>G GRCh37
NC_000012.10:g.6015841T>G NCBI36
NG_009072.1:g.93257A>C
NG_009072.2:g.93257A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2520A>C MANE Select ENSP00000261405.5:p.Glu840Asp
ENST00000261405.9:c.2520A>C ENSP00000261405.5:p.Glu840Asp
ENST00000538635.5:n.421-42480A>C
NM_000552.3:c.2520A>C NP_000543.2:p.Glu840Asp
NM_000552.4:c.2520A>C NP_000543.2:p.Glu840Asp
NM_000552.5:c.2520A>C MANE Select NP_000543.3:p.Glu840Asp
Search 100 bp 5'
Search 100 bp 3'