Canonical Allele Identifier: CA383506569
Community Standard Title: NM_000552.5(VWF):c.3877T>G (p.Phe1293Val)
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019541A>C , CM000674.2:g.6019541A>C GRCh38
NC_000012.11:g.6128707A>C , CM000674.1:g.6128707A>C GRCh37
NC_000012.10:g.5998968A>C NCBI36
NG_009072.1:g.110130T>G
NG_009072.2:g.110130T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000552.5:c.3877T>G MANE Select NP_000543.3:p.Phe1293Val
ENST00000261405.10:c.3877T>G MANE Select ENSP00000261405.5:p.Phe1293Val
NM_000552.3:c.3877T>G NP_000543.2:p.Phe1293Val
NM_000552.4:c.3877T>G NP_000543.2:p.Phe1293Val
ENST00000261405.9:c.3877T>G ENSP00000261405.5:p.Phe1293Val
ENST00000538635.5:n.421-25607T>G
ENST00000539641.1:n.675T>G