Canonical Allele Identifier: CA383512324
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6023772-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023772A>G , CM000674.2:g.6023772A>G GRCh38
NC_000012.11:g.6132938A>G , CM000674.1:g.6132938A>G GRCh37
NC_000012.10:g.6003199A>G NCBI36
NG_009072.1:g.105899T>C
NG_009072.2:g.105899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3238T>C MANE Select ENSP00000261405.5:p.Tyr1080His
ENST00000261405.9:c.3238T>C ENSP00000261405.5:p.Tyr1080His
ENST00000538635.5:n.421-29838T>C
NM_000552.3:c.3238T>C NP_000543.2:p.Tyr1080His
NM_000552.4:c.3238T>C NP_000543.2:p.Tyr1080His
NM_000552.5:c.3238T>C MANE Select NP_000543.3:p.Tyr1080His