Canonical Allele Identifier: CA944315231
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1943437270
gnomAD v3: 12-5968992-G-A
gnomAD v4: 12-5968992-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5968992G>A , CM000674.2:g.5968992G>A GRCh38
NC_000012.11:g.6078158G>A , CM000674.1:g.6078158G>A GRCh37
NC_000012.10:g.5948419G>A NCBI36
NG_009072.1:g.160679C>T
NG_009072.2:g.160679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.7729+219C>T MANE Select ENSP00000261405.5:n.7729+219C>T
ENST00000261405.9:c.7729+219C>T ENSP00000261405.5:n.7729+219C>T
NM_000552.3:c.7729+219C>T NP_000543.2:n.7729+219C>T
NM_000552.4:c.7729+219C>T NP_000543.2:n.7729+219C>T
NM_000552.5:c.7729+219C>T MANE Select NP_000543.3:n.7729+219C>T
Search 100 bp 5'
Search 100 bp 3'