Canonical Allele Identifier: CA383506501
Community Standard Title: NM_000552.5(VWF):c.3882A>T (p.Glu1294Asp)
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019536T>A , CM000674.2:g.6019536T>A GRCh38
NC_000012.11:g.6128702T>A , CM000674.1:g.6128702T>A GRCh37
NC_000012.10:g.5998963T>A NCBI36
NG_009072.1:g.110135A>T
NG_009072.2:g.110135A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000552.5:c.3882A>T MANE Select NP_000543.3:p.Glu1294Asp
ENST00000261405.10:c.3882A>T MANE Select ENSP00000261405.5:p.Glu1294Asp
NM_000552.3:c.3882A>T NP_000543.2:p.Glu1294Asp
NM_000552.4:c.3882A>T NP_000543.2:p.Glu1294Asp
ENST00000261405.9:c.3882A>T ENSP00000261405.5:p.Glu1294Asp
ENST00000538635.5:n.421-25602A>T
ENST00000539641.1:n.680A>T