Canonical Allele Identifier: CA7673648

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76283770T>C , CM000677.2:g.76283770T>C	GRCh38
NC_000015.9:g.76576111T>C , CM000677.1:g.76576111T>C	GRCh37
NC_000015.8:g.74363166T>C	NCBI36
NG_007077.2:g.32700A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.720A>G MANE Select	NP_000117.1:p.Gln240=
ENST00000557943.6:c.720A>G MANE Select	ENSP00000452762.1:p.Gln240=
NM_000126.3:c.720A>G	NP_000117.1:p.Gln240=
NM_001127716.1:c.573A>G	NP_001121188.1:p.Gln191=
NM_001127716.2:c.573A>G	NP_001121188.1:p.Gln191=
ENST00000267950.12:c.*443A>G	ENSP00000267950.8:n.*443A>G
ENST00000433983.6:c.573A>G	ENSP00000399273.2:p.Gln191=
ENST00000557943.5:c.720A>G	ENSP00000452762.1:p.Gln240=
ENST00000558803.1:n.72A>G
ENST00000559075.5:n.744A>G
ENST00000559386.1:c.843A>G	ENSP00000452777.1:p.Gln281=
ENST00000559386.2:c.720A>G	ENSP00000452777.2:p.Gln240=
ENST00000559602.5:c.408A>G	ENSP00000452659.1:p.Gln136=
ENST00000559758.5:n.561A>G
ENST00000559973.5:c.430A>G
ENST00000560044.5:c.*715A>G	ENSP00000452942.1:n.*715A>G
ENST00000560044.6:c.*715A>G	ENSP00000452942.1:n.*715A>G
ENST00000560345.5:c.628A>G
ENST00000560595.5:c.664+1867A>G	ENSP00000453345.1:n.664+1867A>G
ENST00000560595.6:c.939A>G	ENSP00000453345.2:p.Gln313=
ENST00000560726.5:c.-61A>G	ENSP00000453098.1:n.-61A>G
ENST00000560816.5:n.279A>G
ENST00000560899.5:c.-61A>G	ENSP00000453422.1:n.-61A>G
ENST00000565910.6:c.720A>G	ENSP00000458001.2:p.Gln240=
ENST00000685118.1:c.*715A>G	ENSP00000509473.1:n.*715A>G
ENST00000685548.1:c.720A>G	ENSP00000510343.1:p.Gln240=
ENST00000685863.1:c.517+1867A>G	ENSP00000509361.1:n.517+1867A>G
ENST00000687293.1:c.795A>G	ENSP00000509928.1:p.Gln265=
ENST00000687975.1:c.*596A>G	ENSP00000508690.1:n.*596A>G
ENST00000688154.1:c.720A>G	ENSP00000510637.1:p.Gln240=
ENST00000688389.1:c.664+1867A>G	ENSP00000510491.1:n.664+1867A>G
ENST00000688637.1:n.801A>G
ENST00000688908.1:c.555A>G	ENSP00000510242.1:p.Gln185=
ENST00000689120.1:n.804A>G
ENST00000689730.1:c.702A>G	ENSP00000510006.1:p.Gln234=
ENST00000689739.1:n.745+1867A>G
ENST00000690610.1:c.720A>G	ENSP00000510473.1:p.Gln240=
ENST00000691021.1:c.*715A>G	ENSP00000510805.1:n.*715A>G
ENST00000691071.1:n.499A>G
ENST00000691695.1:c.573A>G	ENSP00000509402.1:p.Gln191=
ENST00000692691.1:c.843A>G	ENSP00000508808.1:p.Gln281=
ENST00000693064.1:c.*695A>G	ENSP00000510720.1:n.*695A>G
XR_931766.1:n.775A>G
XR_931766.3:n.801A>G