Canonical Allele Identifier: CA4766892

Gene: ADHFE1

Linked Data

• dbSNP Id: rs141310107
• ExAC: 8:67369088 G / C
• gnomAD v2: 8-67369088-G-C
• gnomAD v3: 8-66456853-G-C
• gnomAD v4: 8-66456853-G-C
• MyVariant Identifiers: chr8:g.67369088G>C (hg19) ; chr8:g.66456853G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456853G>C , CM000670.2:g.66456853G>C	GRCh38
NC_000008.10:g.67369088G>C , CM000670.1:g.67369088G>C	GRCh37
NC_000008.9:g.67531642G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1023G>C MANE Select	ENSP00000379865.3:p.Lys341Asn
ENST00000648156.1:c.*242G>C	ENSP00000497007.1:n.*242G>C
ENST00000276576.11:c.*859G>C	ENSP00000276576.7:n.*859G>C
ENST00000396623.7:c.1023G>C	ENSP00000379865.3:p.Lys341Asn
ENST00000415254.5:c.879G>C	ENSP00000407115.1:p.Lys293Asn
ENST00000419955.5:c.*1032G>C	ENSP00000392040.1:n.*1032G>C
ENST00000424777.6:c.*460G>C	ENSP00000410883.2:n.*460G>C
ENST00000426810.5:c.*1208G>C	ENSP00000406905.1:n.*1208G>C
ENST00000480040.5:n.98G>C
ENST00000496501.5:n.897G>C
NM_144650.2:c.1023G>C	NP_653251.2:p.Lys341Asn
NM_144650.3:c.1023G>C MANE Select	NP_653251.2:p.Lys341Asn