Canonical Allele Identifier: CA383498727
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018514T>G , CM000674.2:g.6018514T>G GRCh38
NC_000012.11:g.6127680T>G , CM000674.1:g.6127680T>G GRCh37
NC_000012.10:g.5997941T>G NCBI36
NG_009072.1:g.111157A>C
NG_009072.2:g.111157A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4904A>C MANE Select ENSP00000261405.5:p.Asn1635Thr
ENST00000261405.9:c.4904A>C ENSP00000261405.5:p.Asn1635Thr
ENST00000538635.5:n.421-24580A>C
NM_000552.3:c.4904A>C NP_000543.2:p.Asn1635Thr
NM_000552.4:c.4904A>C NP_000543.2:p.Asn1635Thr
NM_000552.5:c.4904A>C MANE Select NP_000543.3:p.Asn1635Thr