Canonical Allele Identifier: CA690504995
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1278739127
gnomAD v3: 12-6022171-T-A
gnomAD v4: 12-6022171-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6022171T>A , CM000674.2:g.6022171T>A GRCh38
NC_000012.11:g.6131337T>A , CM000674.1:g.6131337T>A GRCh37
NC_000012.10:g.6001598T>A NCBI36
NG_009072.1:g.107500A>T
NG_009072.2:g.107500A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3539-136A>T MANE Select ENSP00000261405.5:n.3539-136A>T
ENST00000261405.9:c.3539-136A>T ENSP00000261405.5:n.3539-136A>T
ENST00000538635.5:n.421-28237A>T
NM_000552.3:c.3539-136A>T NP_000543.2:n.3539-136A>T
NM_000552.4:c.3539-136A>T NP_000543.2:n.3539-136A>T
NM_000552.5:c.3539-136A>T MANE Select NP_000543.3:n.3539-136A>T