Canonical Allele Identifier: CA690504604
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs757454849
gnomAD v3: 12-6021877-A-G
gnomAD v4: 12-6021877-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021877A>G , CM000674.2:g.6021877A>G GRCh38
NC_000012.11:g.6131043A>G , CM000674.1:g.6131043A>G GRCh37
NC_000012.10:g.6001304A>G NCBI36
NG_009072.1:g.107794T>C
NG_009072.2:g.107794T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3674+23T>C MANE Select ENSP00000261405.5:n.3674+23T>C
ENST00000261405.9:c.3674+23T>C ENSP00000261405.5:n.3674+23T>C
ENST00000538635.5:n.421-27943T>C
ENST00000539641.1:n.27+23T>C
NM_000552.3:c.3674+23T>C NP_000543.2:n.3674+23T>C
NM_000552.4:c.3674+23T>C NP_000543.2:n.3674+23T>C
NM_000552.5:c.3674+23T>C MANE Select NP_000543.3:n.3674+23T>C