Canonical Allele Identifier: CA1790505510

Gene: ADHFE1

Linked Data

• dbSNP Id: rs1030420

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66448490C>A , CM000670.2:g.66448490C>A	GRCh38
NC_000008.10:g.67360725C>A , CM000670.1:g.67360725C>A	GRCh37
NC_000008.9:g.67523279C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.629-375C>A MANE Select	ENSP00000379865.3:n.629-375C>A
ENST00000648156.1:c.485-375C>A	ENSP00000497007.1:n.485-375C>A
ENST00000276576.11:c.*465-375C>A	ENSP00000276576.7:n.*465-375C>A
ENST00000396621.7:c.*51-375C>A	ENSP00000379864.3:n.*51-375C>A
ENST00000396623.7:c.629-375C>A	ENSP00000379865.3:n.629-375C>A
ENST00000415254.5:c.485-375C>A	ENSP00000407115.1:n.485-375C>A
ENST00000419955.5:c.*289-375C>A	ENSP00000392040.1:n.*289-375C>A
ENST00000422166.5:c.354-375C>A	ENSP00000387956.1:n.354-375C>A
ENST00000424777.6:c.629-375C>A	ENSP00000410883.2:n.629-375C>A
ENST00000426810.5:c.*465-375C>A	ENSP00000406905.1:n.*465-375C>A
ENST00000443372.5:c.*239-375C>A	ENSP00000409714.1:n.*239-375C>A
ENST00000496501.5:n.503-375C>A
NM_144650.2:c.629-375C>A	NP_653251.2:n.629-375C>A
NM_144650.3:c.629-375C>A MANE Select	NP_653251.2:n.629-375C>A