Canonical Allele Identifier: CA4766894

Gene: ADHFE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1025T>C MANE Select	ENSP00000379865.3:p.Met342Thr
ENST00000648156.1:c.*244T>C	ENSP00000497007.1:n.*244T>C
ENST00000276576.11:c.*861T>C	ENSP00000276576.7:n.*861T>C
ENST00000396623.7:c.1025T>C	ENSP00000379865.3:p.Met342Thr
ENST00000415254.5:c.881T>C	ENSP00000407115.1:p.Met294Thr
ENST00000419955.5:c.*1034T>C	ENSP00000392040.1:n.*1034T>C
ENST00000424777.6:c.*462T>C	ENSP00000410883.2:n.*462T>C
ENST00000426810.5:c.*1210T>C	ENSP00000406905.1:n.*1210T>C
ENST00000480040.5:n.100T>C
ENST00000496501.5:n.899T>C
NM_144650.2:c.1025T>C	NP_653251.2:p.Met342Thr
NM_144650.3:c.1025T>C MANE Select	NP_653251.2:p.Met342Thr