Canonical Allele Identifier: CA690483973
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1224314454
gnomAD v3: 12-5968879-G-C
gnomAD v4: 12-5968879-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5968879G>C , CM000674.2:g.5968879G>C GRCh38
NC_000012.11:g.6078045G>C , CM000674.1:g.6078045G>C GRCh37
NC_000012.10:g.5948306G>C NCBI36
NG_009072.1:g.160792C>G
NG_009072.2:g.160792C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.7729+332C>G MANE Select ENSP00000261405.5:n.7729+332C>G
ENST00000261405.9:c.7729+332C>G ENSP00000261405.5:n.7729+332C>G
NM_000552.3:c.7729+332C>G NP_000543.2:n.7729+332C>G
NM_000552.4:c.7729+332C>G NP_000543.2:n.7729+332C>G
NM_000552.5:c.7729+332C>G MANE Select NP_000543.3:n.7729+332C>G