Canonical Allele Identifier: CA371360013

Gene: ADHFE1

Linked Data

• dbSNP Id: rs1323295095
• gnomAD v2: 8-67369097-A-C
• gnomAD v3: 8-66456862-A-C
• gnomAD v4: 8-66456862-A-C
• MyVariant Identifiers: chr8:g.67369097A>C (hg19) ; chr8:g.66456862A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456862A>C , CM000670.2:g.66456862A>C	GRCh38
NC_000008.10:g.67369097A>C , CM000670.1:g.67369097A>C	GRCh37
NC_000008.9:g.67531651A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1032A>C MANE Select	ENSP00000379865.3:p.Lys344Asn
ENST00000648156.1:c.*251A>C	ENSP00000497007.1:n.*251A>C
ENST00000276576.11:c.*868A>C	ENSP00000276576.7:n.*868A>C
ENST00000396623.7:c.1032A>C	ENSP00000379865.3:p.Lys344Asn
ENST00000415254.5:c.888A>C	ENSP00000407115.1:p.Lys296Asn
ENST00000419955.5:c.*1041A>C	ENSP00000392040.1:n.*1041A>C
ENST00000424777.6:c.*469A>C	ENSP00000410883.2:n.*469A>C
ENST00000426810.5:c.*1217A>C	ENSP00000406905.1:n.*1217A>C
ENST00000480040.5:n.107A>C
ENST00000496501.5:n.906A>C
NM_144650.2:c.1032A>C	NP_653251.2:p.Lys344Asn
NM_144650.3:c.1032A>C MANE Select	NP_653251.2:p.Lys344Asn