Canonical Allele Identifier: CA232298871
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs978081517
gnomAD v3: 12-6031639-A-C
gnomAD v4: 12-6031639-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031639A>C , CM000674.2:g.6031639A>C GRCh38
NC_000012.11:g.6140805A>C , CM000674.1:g.6140805A>C GRCh37
NC_000012.10:g.6011066A>C NCBI36
NG_009072.1:g.98032T>G
NG_009072.2:g.98032T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2686-61T>G MANE Select ENSP00000261405.5:n.2686-61T>G
ENST00000261405.9:c.2686-61T>G ENSP00000261405.5:n.2686-61T>G
ENST00000538635.5:n.421-37705T>G
NM_000552.3:c.2686-61T>G NP_000543.2:n.2686-61T>G
NM_000552.4:c.2686-61T>G NP_000543.2:n.2686-61T>G
NM_000552.5:c.2686-61T>G MANE Select NP_000543.3:n.2686-61T>G