Canonical Allele Identifier: CA690484047
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1226742382
gnomAD v3: 12-5969013-G-A
gnomAD v4: 12-5969013-G-A
MyVariant Identifiers: chr12:g.6078179G>A (hg19) chr12:g.5969013G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5969013G>A , CM000674.2:g.5969013G>A GRCh38
NC_000012.11:g.6078179G>A , CM000674.1:g.6078179G>A GRCh37
NC_000012.10:g.5948440G>A NCBI36
NG_009072.1:g.160658C>T
NG_009072.2:g.160658C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.7729+198C>T MANE Select ENSP00000261405.5:n.7729+198C>T
ENST00000261405.9:c.7729+198C>T ENSP00000261405.5:n.7729+198C>T
NM_000552.3:c.7729+198C>T NP_000543.2:n.7729+198C>T
NM_000552.4:c.7729+198C>T NP_000543.2:n.7729+198C>T
NM_000552.5:c.7729+198C>T MANE Select NP_000543.3:n.7729+198C>T
Search 100 bp 5'
Search 100 bp 3'