Canonical Allele Identifier: CA2629673155

Gene: ETFA

Linked Data

• gnomAD v4: 15-76285592-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76285592A>G , CM000677.2:g.76285592A>G	GRCh38
NC_000015.9:g.76577933A>G , CM000677.1:g.76577933A>G	GRCh37
NC_000015.8:g.74364988A>G	NCBI36
NG_007077.2:g.30878T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559386.2:c.664+45T>C	ENSP00000452777.2:n.664+45T>C
ENST00000560044.6:c.*659+45T>C	ENSP00000452942.1:n.*659+45T>C
ENST00000560595.6:c.664+45T>C	ENSP00000453345.2:n.664+45T>C
ENST00000565910.6:c.664+45T>C	ENSP00000458001.2:n.664+45T>C
ENST00000685118.1:c.*659+45T>C	ENSP00000509473.1:n.*659+45T>C
ENST00000685548.1:c.664+45T>C	ENSP00000510343.1:n.664+45T>C
ENST00000685863.1:c.517+45T>C	ENSP00000509361.1:n.517+45T>C
ENST00000687293.1:c.664+45T>C	ENSP00000509928.1:n.664+45T>C
ENST00000687975.1:c.*540+45T>C	ENSP00000508690.1:n.*540+45T>C
ENST00000688154.1:c.664+45T>C	ENSP00000510637.1:n.664+45T>C
ENST00000688389.1:c.664+45T>C	ENSP00000510491.1:n.664+45T>C
ENST00000688637.1:n.745+45T>C
ENST00000688908.1:c.499+45T>C	ENSP00000510242.1:n.499+45T>C
ENST00000689120.1:n.748+45T>C
ENST00000689730.1:c.646+45T>C	ENSP00000510006.1:n.646+45T>C
ENST00000689739.1:n.745+45T>C
ENST00000690610.1:c.664+45T>C	ENSP00000510473.1:n.664+45T>C
ENST00000691021.1:c.*659+45T>C	ENSP00000510805.1:n.*659+45T>C
ENST00000691071.1:n.443+45T>C
ENST00000691695.1:c.517+45T>C	ENSP00000509402.1:n.517+45T>C
ENST00000692691.1:c.664+45T>C	ENSP00000508808.1:n.664+45T>C
ENST00000693064.1:c.*639+45T>C	ENSP00000510720.1:n.*639+45T>C
ENST00000557943.6:c.664+45T>C MANE Select	ENSP00000452762.1:n.664+45T>C
ENST00000267950.12:c.*387+45T>C	ENSP00000267950.8:n.*387+45T>C
ENST00000433983.6:c.517+45T>C	ENSP00000399273.2:n.517+45T>C
ENST00000557943.5:c.664+45T>C	ENSP00000452762.1:n.664+45T>C
ENST00000559075.5:n.688+45T>C
ENST00000559386.1:c.664+45T>C	ENSP00000452777.1:n.664+45T>C
ENST00000559602.5:c.352+45T>C	ENSP00000452659.1:n.352+45T>C
ENST00000559758.5:n.505+45T>C
ENST00000559973.5:c.374+45T>C
ENST00000560044.5:c.*659+45T>C	ENSP00000452942.1:n.*659+45T>C
ENST00000560345.5:c.476+45T>C
ENST00000560595.5:c.664+45T>C	ENSP00000453345.1:n.664+45T>C
ENST00000560726.5:c.-117+45T>C	ENSP00000453098.1:n.-117+45T>C
ENST00000560816.5:n.223+45T>C
ENST00000560899.5:c.-117+45T>C	ENSP00000453422.1:n.-117+45T>C
NM_000126.3:c.664+45T>C	NP_000117.1:n.664+45T>C
NM_001127716.1:c.517+45T>C	NP_001121188.1:n.517+45T>C
XR_931766.1:n.719+45T>C
XR_931766.3:n.745+45T>C
NM_000126.4:c.664+45T>C MANE Select	NP_000117.1:n.664+45T>C
NM_001127716.2:c.517+45T>C	NP_001121188.1:n.517+45T>C