Canonical Allele Identifier: CA371359974

Gene: ADHFE1

Linked Data

• dbSNP Id: rs765523027
• gnomAD v2: 8-67369090-T-A
• gnomAD v3: 8-66456855-T-A
• gnomAD v4: 8-66456855-T-A
• MyVariant Identifiers: chr8:g.67369090T>A (hg19) ; chr8:g.66456855T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456855T>A , CM000670.2:g.66456855T>A	GRCh38
NC_000008.10:g.67369090T>A , CM000670.1:g.67369090T>A	GRCh37
NC_000008.9:g.67531644T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1025T>A MANE Select	ENSP00000379865.3:p.Met342Lys
ENST00000648156.1:c.*244T>A	ENSP00000497007.1:n.*244T>A
ENST00000276576.11:c.*861T>A	ENSP00000276576.7:n.*861T>A
ENST00000396623.7:c.1025T>A	ENSP00000379865.3:p.Met342Lys
ENST00000415254.5:c.881T>A	ENSP00000407115.1:p.Met294Lys
ENST00000419955.5:c.*1034T>A	ENSP00000392040.1:n.*1034T>A
ENST00000424777.6:c.*462T>A	ENSP00000410883.2:n.*462T>A
ENST00000426810.5:c.*1210T>A	ENSP00000406905.1:n.*1210T>A
ENST00000480040.5:n.100T>A
ENST00000496501.5:n.899T>A
NM_144650.2:c.1025T>A	NP_653251.2:p.Met342Lys
NM_144650.3:c.1025T>A MANE Select	NP_653251.2:p.Met342Lys