Canonical Allele Identifier: CA383506493
Community Standard Title: NM_000552.5(VWF):c.3884T>A (p.Val1295Glu)
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019534A>T , CM000674.2:g.6019534A>T GRCh38
NC_000012.11:g.6128700A>T , CM000674.1:g.6128700A>T GRCh37
NC_000012.10:g.5998961A>T NCBI36
NG_009072.1:g.110137T>A
NG_009072.2:g.110137T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000552.5:c.3884T>A MANE Select NP_000543.3:p.Val1295Glu
ENST00000261405.10:c.3884T>A MANE Select ENSP00000261405.5:p.Val1295Glu
NM_000552.3:c.3884T>A NP_000543.2:p.Val1295Glu
NM_000552.4:c.3884T>A NP_000543.2:p.Val1295Glu
ENST00000261405.9:c.3884T>A ENSP00000261405.5:p.Val1295Glu
ENST00000538635.5:n.421-25600T>A
ENST00000539641.1:n.682T>A