Canonical Allele Identifier: CA383512231
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3278C>G MANE Select ENSP00000261405.5:p.Ser1093Cys
ENST00000261405.9:c.3278C>G ENSP00000261405.5:p.Ser1093Cys
ENST00000538635.5:n.421-29798C>G
NM_000552.3:c.3278C>G NP_000543.2:p.Ser1093Cys
NM_000552.4:c.3278C>G NP_000543.2:p.Ser1093Cys
NM_000552.5:c.3278C>G MANE Select NP_000543.3:p.Ser1093Cys