Canonical Allele Identifier: CA6402969
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs763488500
gnomAD v2: 12-6140726-G-C
gnomAD v4: 12-6031560-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031560G>C , CM000674.2:g.6031560G>C GRCh38
NC_000012.11:g.6140726G>C , CM000674.1:g.6140726G>C GRCh37
NC_000012.10:g.6010987G>C NCBI36
NG_009072.1:g.98111C>G
NG_009072.2:g.98111C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2704C>G MANE Select ENSP00000261405.5:p.Pro902Ala
ENST00000261405.9:c.2704C>G ENSP00000261405.5:p.Pro902Ala
ENST00000538635.5:n.421-37626C>G
NM_000552.3:c.2704C>G NP_000543.2:p.Pro902Ala
NM_000552.4:c.2704C>G NP_000543.2:p.Pro902Ala
NM_000552.5:c.2704C>G MANE Select NP_000543.3:p.Pro902Ala