Canonical Allele Identifier: CA383512232
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023732G>T , CM000674.2:g.6023732G>T GRCh38
NC_000012.11:g.6132898G>T , CM000674.1:g.6132898G>T GRCh37
NC_000012.10:g.6003159G>T NCBI36
NG_009072.1:g.105939C>A
NG_009072.2:g.105939C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3278C>A MANE Select ENSP00000261405.5:p.Ser1093Tyr
ENST00000261405.9:c.3278C>A ENSP00000261405.5:p.Ser1093Tyr
ENST00000538635.5:n.421-29798C>A
NM_000552.3:c.3278C>A NP_000543.2:p.Ser1093Tyr
NM_000552.4:c.3278C>A NP_000543.2:p.Ser1093Tyr
NM_000552.5:c.3278C>A MANE Select NP_000543.3:p.Ser1093Tyr