Canonical Allele Identifier: CA690489814
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1416450384
gnomAD v4: 12-6031699-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031699T>C , CM000674.2:g.6031699T>C GRCh38
NC_000012.11:g.6140865T>C , CM000674.1:g.6140865T>C GRCh37
NC_000012.10:g.6011126T>C NCBI36
NG_009072.1:g.97972A>G
NG_009072.2:g.97972A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2686-121A>G MANE Select ENSP00000261405.5:n.2686-121A>G
ENST00000261405.9:c.2686-121A>G ENSP00000261405.5:n.2686-121A>G
ENST00000538635.5:n.421-37765A>G
NM_000552.3:c.2686-121A>G NP_000543.2:n.2686-121A>G
NM_000552.4:c.2686-121A>G NP_000543.2:n.2686-121A>G
NM_000552.5:c.2686-121A>G MANE Select NP_000543.3:n.2686-121A>G