Canonical Allele Identifier: CA383506529
Community Standard Title: NM_000552.5(VWF):c.3880G>A (p.Glu1294Lys)
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019538C>T , CM000674.2:g.6019538C>T GRCh38
NC_000012.11:g.6128704C>T , CM000674.1:g.6128704C>T GRCh37
NC_000012.10:g.5998965C>T NCBI36
NG_009072.1:g.110133G>A
NG_009072.2:g.110133G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000552.5:c.3880G>A MANE Select NP_000543.3:p.Glu1294Lys
ENST00000261405.10:c.3880G>A MANE Select ENSP00000261405.5:p.Glu1294Lys
NM_000552.3:c.3880G>A NP_000543.2:p.Glu1294Lys
NM_000552.4:c.3880G>A NP_000543.2:p.Glu1294Lys
ENST00000261405.9:c.3880G>A ENSP00000261405.5:p.Glu1294Lys
ENST00000538635.5:n.421-25604G>A
ENST00000539641.1:n.678G>A