Canonical Allele Identifier: CA944315204
Gene: VWF HGNC NCBI

Linked Data

gnomAD v3: 12-6058148-T-A
gnomAD v4: 12-6058148-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058148T>A , CM000674.2:g.6058148T>A GRCh38
NC_000012.11:g.6167314T>A , CM000674.1:g.6167314T>A GRCh37
NC_000012.10:g.6037575T>A NCBI36
NG_009072.1:g.71523A>T
NG_009072.2:g.71523A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-104A>T MANE Select ENSP00000261405.5:n.1534-104A>T
ENST00000261405.9:c.1534-104A>T ENSP00000261405.5:n.1534-104A>T
ENST00000538635.5:n.420+52367A>T
NM_000552.3:c.1534-104A>T NP_000543.2:n.1534-104A>T
NM_000552.4:c.1534-104A>T NP_000543.2:n.1534-104A>T
NM_000552.5:c.1534-104A>T MANE Select NP_000543.3:n.1534-104A>T