Canonical Allele Identifier: CA232299419
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs192432583
gnomAD v2: 12-6145224-T-G
gnomAD v3: 12-6036058-T-G
gnomAD v4: 12-6036058-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036058T>G , CM000674.2:g.6036058T>G GRCh38
NC_000012.11:g.6145224T>G , CM000674.1:g.6145224T>G GRCh37
NC_000012.10:g.6015485T>G NCBI36
NG_009072.1:g.93613A>C
NG_009072.2:g.93613A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+330A>C MANE Select ENSP00000261405.5:n.2546+330A>C
ENST00000261405.9:c.2546+330A>C ENSP00000261405.5:n.2546+330A>C
ENST00000538635.5:n.421-42124A>C
NM_000552.3:c.2546+330A>C NP_000543.2:n.2546+330A>C
NM_000552.4:c.2546+330A>C NP_000543.2:n.2546+330A>C
NM_000552.5:c.2546+330A>C MANE Select NP_000543.3:n.2546+330A>C