Canonical Allele Identifier: CA478501898
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1170073526
gnomAD v2: 12-6127754-A-G
gnomAD v4: 12-6018588-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018588A>G , CM000674.2:g.6018588A>G GRCh38
NC_000012.11:g.6127754A>G , CM000674.1:g.6127754A>G GRCh37
NC_000012.10:g.5998015A>G NCBI36
NG_009072.1:g.111083T>C
NG_009072.2:g.111083T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4830T>C MANE Select ENSP00000261405.5:p.Asn1610=
ENST00000261405.9:c.4830T>C ENSP00000261405.5:p.Asn1610=
ENST00000538635.5:n.421-24654T>C
NM_000552.3:c.4830T>C NP_000543.2:p.Asn1610=
NM_000552.4:c.4830T>C NP_000543.2:p.Asn1610=
NM_000552.5:c.4830T>C MANE Select NP_000543.3:p.Asn1610=