Canonical Allele Identifier: CA12894938

Gene: ADHFE1

Linked Data

• dbSNP Id: rs2303519
• gnomAD v2: 8-67369184-C-T
• gnomAD v3: 8-66456949-C-T
• gnomAD v4: 8-66456949-C-T
• MyVariant Identifiers: chr8:g.67369184C>T (hg19) ; chr8:g.66456949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456949C>T , CM000670.2:g.66456949C>T	GRCh38
NC_000008.10:g.67369184C>T , CM000670.1:g.67369184C>T	GRCh37
NC_000008.9:g.67531738C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1065+54C>T MANE Select	ENSP00000379865.3:n.1065+54C>T
ENST00000648156.1:c.*284+54C>T	ENSP00000497007.1:n.*284+54C>T
ENST00000276576.11:c.*901+54C>T	ENSP00000276576.7:n.*901+54C>T
ENST00000396623.7:c.1065+54C>T	ENSP00000379865.3:n.1065+54C>T
ENST00000415254.5:c.921+54C>T	ENSP00000407115.1:n.921+54C>T
ENST00000419955.5:c.*1074+54C>T	ENSP00000392040.1:n.*1074+54C>T
ENST00000424777.6:c.*502+54C>T	ENSP00000410883.2:n.*502+54C>T
ENST00000426810.5:c.*1250+54C>T	ENSP00000406905.1:n.*1250+54C>T
ENST00000480040.5:n.140+54C>T
ENST00000496501.5:n.939+54C>T
NM_144650.2:c.1065+54C>T	NP_653251.2:n.1065+54C>T
NM_144650.3:c.1065+54C>T MANE Select	NP_653251.2:n.1065+54C>T