Canonical Allele Identifier: CA4766895

Gene: ADHFE1

Linked Data

• dbSNP Id: rs750433354
• ExAC: 8:67369091 G / A
• gnomAD v2: 8-67369091-G-A
• gnomAD v3: 8-66456856-G-A
• gnomAD v4: 8-66456856-G-A
• MyVariant Identifiers: chr8:g.67369091G>A (hg19) ; chr8:g.66456856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456856G>A , CM000670.2:g.66456856G>A	GRCh38
NC_000008.10:g.67369091G>A , CM000670.1:g.67369091G>A	GRCh37
NC_000008.9:g.67531645G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1026G>A MANE Select	ENSP00000379865.3:p.Met342Ile
ENST00000648156.1:c.*245G>A	ENSP00000497007.1:n.*245G>A
ENST00000276576.11:c.*862G>A	ENSP00000276576.7:n.*862G>A
ENST00000396623.7:c.1026G>A	ENSP00000379865.3:p.Met342Ile
ENST00000415254.5:c.882G>A	ENSP00000407115.1:p.Met294Ile
ENST00000419955.5:c.*1035G>A	ENSP00000392040.1:n.*1035G>A
ENST00000424777.6:c.*463G>A	ENSP00000410883.2:n.*463G>A
ENST00000426810.5:c.*1211G>A	ENSP00000406905.1:n.*1211G>A
ENST00000480040.5:n.101G>A
ENST00000496501.5:n.900G>A
NM_144650.2:c.1026G>A	NP_653251.2:p.Met342Ile
NM_144650.3:c.1026G>A MANE Select	NP_653251.2:p.Met342Ile