Canonical Allele Identifier: CA491327955

Gene: ETFA

Linked Data

• ClinVar Variation Id: 1648148
• ClinVar RCV Id: RCV002153896
• dbSNP Id: rs775043427
• gnomAD v4: 15-76286465-T-G
• MyVariant Identifiers: chr15:g.76578806T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76286465T>G , CM000677.2:g.76286465T>G	GRCh38
NC_000015.9:g.76578806T>G , CM000677.1:g.76578806T>G	GRCh37
NC_000015.8:g.74365861T>G	NCBI36
NG_007077.2:g.30005A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559386.2:c.468A>C	ENSP00000452777.2:p.Thr156=
ENST00000560044.6:c.*463A>C	ENSP00000452942.1:n.*463A>C
ENST00000560595.6:c.468A>C	ENSP00000453345.2:p.Thr156=
ENST00000565910.6:c.468A>C	ENSP00000458001.2:p.Thr156=
ENST00000685118.1:c.*463A>C	ENSP00000509473.1:n.*463A>C
ENST00000685548.1:c.468A>C	ENSP00000510343.1:p.Thr156=
ENST00000685863.1:c.321A>C	ENSP00000509361.1:p.Thr107=
ENST00000687293.1:c.468A>C	ENSP00000509928.1:p.Thr156=
ENST00000687975.1:c.*344A>C	ENSP00000508690.1:n.*344A>C
ENST00000688154.1:c.468A>C	ENSP00000510637.1:p.Thr156=
ENST00000688389.1:c.468A>C	ENSP00000510491.1:p.Thr156=
ENST00000688637.1:n.549A>C
ENST00000688908.1:c.305-2A>C	ENSP00000510242.1:n.305-2A>C
ENST00000689120.1:n.552A>C
ENST00000689730.1:c.452-2A>C	ENSP00000510006.1:n.452-2A>C
ENST00000689739.1:n.549A>C
ENST00000690610.1:c.468A>C	ENSP00000510473.1:p.Thr156=
ENST00000691021.1:c.*463A>C	ENSP00000510805.1:n.*463A>C
ENST00000691071.1:n.247A>C
ENST00000691695.1:c.321A>C	ENSP00000509402.1:p.Thr107=
ENST00000692691.1:c.468A>C	ENSP00000508808.1:p.Thr156=
ENST00000693064.1:c.*443A>C	ENSP00000510720.1:n.*443A>C
ENST00000557943.6:c.468A>C MANE Select	ENSP00000452762.1:p.Thr156=
ENST00000267950.12:c.*191A>C	ENSP00000267950.8:n.*191A>C
ENST00000433983.6:c.321A>C	ENSP00000399273.2:p.Thr107=
ENST00000557943.5:c.468A>C	ENSP00000452762.1:p.Thr156=
ENST00000559075.5:n.492A>C
ENST00000559386.1:c.468A>C	ENSP00000452777.1:p.Thr156=
ENST00000559602.5:c.156A>C	ENSP00000452659.1:p.Thr52=
ENST00000559758.5:n.309A>C
ENST00000559973.5:c.178A>C
ENST00000560044.5:c.*463A>C	ENSP00000452942.1:n.*463A>C
ENST00000560309.5:c.*381A>C	ENSP00000453753.1:n.*381A>C
ENST00000560345.5:c.280A>C
ENST00000560595.5:c.468A>C	ENSP00000453345.1:p.Thr156=
ENST00000560726.5:c.-313A>C	ENSP00000453098.1:n.-313A>C
ENST00000560816.5:n.27A>C
ENST00000560899.5:c.-313A>C	ENSP00000453422.1:n.-313A>C
NM_000126.3:c.468A>C	NP_000117.1:p.Thr156=
NM_001127716.1:c.321A>C	NP_001121188.1:p.Thr107=
XR_931766.1:n.523A>C
XR_931766.3:n.549A>C
NM_000126.4:c.468A>C MANE Select	NP_000117.1:p.Thr156=
NM_001127716.2:c.321A>C	NP_001121188.1:p.Thr107=