Canonical Allele Identifier: CA2629652682

Gene: ETFA

Linked Data

• gnomAD v4: 15-76292344-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76292344A>C , CM000677.2:g.76292344A>C	GRCh38
NC_000015.9:g.76584685A>C , CM000677.1:g.76584685A>C	GRCh37
NC_000015.8:g.74371740A>C	NCBI36
NG_007077.2:g.24126T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559386.2:c.351+87T>G	ENSP00000452777.2:n.351+87T>G
ENST00000560044.6:c.*346+87T>G	ENSP00000452942.1:n.*346+87T>G
ENST00000560595.6:c.351+87T>G	ENSP00000453345.2:n.351+87T>G
ENST00000565910.6:c.351+87T>G	ENSP00000458001.2:n.351+87T>G
ENST00000685118.1:c.*346+87T>G	ENSP00000509473.1:n.*346+87T>G
ENST00000685548.1:c.351+87T>G	ENSP00000510343.1:n.351+87T>G
ENST00000685863.1:c.204+87T>G	ENSP00000509361.1:n.204+87T>G
ENST00000687293.1:c.351+87T>G	ENSP00000509928.1:n.351+87T>G
ENST00000687975.1:c.*227+87T>G	ENSP00000508690.1:n.*227+87T>G
ENST00000688154.1:c.351+87T>G	ENSP00000510637.1:n.351+87T>G
ENST00000688389.1:c.351+87T>G	ENSP00000510491.1:n.351+87T>G
ENST00000688637.1:n.432+87T>G
ENST00000688908.1:c.204+87T>G	ENSP00000510242.1:n.204+87T>G
ENST00000689730.1:c.351+87T>G	ENSP00000510006.1:n.351+87T>G
ENST00000689739.1:n.432+87T>G
ENST00000690610.1:c.351+87T>G	ENSP00000510473.1:n.351+87T>G
ENST00000691021.1:c.*346+87T>G	ENSP00000510805.1:n.*346+87T>G
ENST00000691071.1:n.130+87T>G
ENST00000691695.1:c.204+87T>G	ENSP00000509402.1:n.204+87T>G
ENST00000692691.1:c.351+87T>G	ENSP00000508808.1:n.351+87T>G
ENST00000693064.1:c.*326+87T>G	ENSP00000510720.1:n.*326+87T>G
ENST00000557943.6:c.351+87T>G MANE Select	ENSP00000452762.1:n.351+87T>G
ENST00000267950.12:c.*74+87T>G	ENSP00000267950.8:n.*74+87T>G
ENST00000433983.6:c.204+87T>G	ENSP00000399273.2:n.204+87T>G
ENST00000557943.5:c.351+87T>G	ENSP00000452762.1:n.351+87T>G
ENST00000559075.5:n.375+87T>G
ENST00000559386.1:c.351+87T>G	ENSP00000452777.1:n.351+87T>G
ENST00000559602.5:c.40-4399T>G	ENSP00000452659.1:n.40-4399T>G
ENST00000559758.5:n.192+87T>G
ENST00000559973.5:c.61+87T>G
ENST00000560044.5:c.*346+87T>G	ENSP00000452942.1:n.*346+87T>G
ENST00000560309.5:c.*264+87T>G	ENSP00000453753.1:n.*264+87T>G
ENST00000560345.5:c.163+87T>G
ENST00000560595.5:c.351+87T>G	ENSP00000453345.1:n.351+87T>G
ENST00000560726.5:c.-430+87T>G	ENSP00000453098.1:n.-430+87T>G
ENST00000560899.5:c.-430+87T>G	ENSP00000453422.1:n.-430+87T>G
ENST00000561092.1:n.283+87T>G
NM_000126.3:c.351+87T>G	NP_000117.1:n.351+87T>G
NM_001127716.1:c.204+87T>G	NP_001121188.1:n.204+87T>G
XR_931766.1:n.406+87T>G
XR_931766.3:n.432+87T>G
NM_000126.4:c.351+87T>G MANE Select	NP_000117.1:n.351+87T>G
NM_001127716.2:c.204+87T>G	NP_001121188.1:n.204+87T>G