Canonical Allele Identifier: CA393513893

Gene: ETFA

Linked Data

• ClinVar Variation Id: 1381780
• ClinVar RCV Id: RCV001897174
• dbSNP Id: rs1286837897
• gnomAD v4: 15-76286472-A-G
• COSMIC: COSM4789820
• MyVariant Identifiers: chr15:g.76578813A>G (hg19) ; chr15:g.76286472A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76286472A>G , CM000677.2:g.76286472A>G	GRCh38
NC_000015.9:g.76578813A>G , CM000677.1:g.76578813A>G	GRCh37
NC_000015.8:g.74365868A>G	NCBI36
NG_007077.2:g.29998T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559386.2:c.461T>C	ENSP00000452777.2:p.Leu154Pro
ENST00000560044.6:c.*456T>C	ENSP00000452942.1:n.*456T>C
ENST00000560595.6:c.461T>C	ENSP00000453345.2:p.Leu154Pro
ENST00000565910.6:c.461T>C	ENSP00000458001.2:p.Leu154Pro
ENST00000685118.1:c.*456T>C	ENSP00000509473.1:n.*456T>C
ENST00000685548.1:c.461T>C	ENSP00000510343.1:p.Leu154Pro
ENST00000685863.1:c.314T>C	ENSP00000509361.1:p.Leu105Pro
ENST00000687293.1:c.461T>C	ENSP00000509928.1:p.Leu154Pro
ENST00000687975.1:c.*337T>C	ENSP00000508690.1:n.*337T>C
ENST00000688154.1:c.461T>C	ENSP00000510637.1:p.Leu154Pro
ENST00000688389.1:c.461T>C	ENSP00000510491.1:p.Leu154Pro
ENST00000688637.1:n.542T>C
ENST00000688908.1:c.305-9T>C	ENSP00000510242.1:n.305-9T>C
ENST00000689120.1:n.545T>C
ENST00000689730.1:c.452-9T>C	ENSP00000510006.1:n.452-9T>C
ENST00000689739.1:n.542T>C
ENST00000690610.1:c.461T>C	ENSP00000510473.1:p.Leu154Pro
ENST00000691021.1:c.*456T>C	ENSP00000510805.1:n.*456T>C
ENST00000691071.1:n.240T>C
ENST00000691695.1:c.314T>C	ENSP00000509402.1:p.Leu105Pro
ENST00000692691.1:c.461T>C	ENSP00000508808.1:p.Leu154Pro
ENST00000693064.1:c.*436T>C	ENSP00000510720.1:n.*436T>C
ENST00000557943.6:c.461T>C MANE Select	ENSP00000452762.1:p.Leu154Pro
ENST00000267950.12:c.*184T>C	ENSP00000267950.8:n.*184T>C
ENST00000433983.6:c.314T>C	ENSP00000399273.2:p.Leu105Pro
ENST00000557943.5:c.461T>C	ENSP00000452762.1:p.Leu154Pro
ENST00000559075.5:n.485T>C
ENST00000559386.1:c.461T>C	ENSP00000452777.1:p.Leu154Pro
ENST00000559602.5:c.149T>C	ENSP00000452659.1:p.Leu50Pro
ENST00000559758.5:n.302T>C
ENST00000559973.5:c.171T>C
ENST00000560044.5:c.*456T>C	ENSP00000452942.1:n.*456T>C
ENST00000560309.5:c.*374T>C	ENSP00000453753.1:n.*374T>C
ENST00000560345.5:c.273T>C
ENST00000560595.5:c.461T>C	ENSP00000453345.1:p.Leu154Pro
ENST00000560726.5:c.-320T>C	ENSP00000453098.1:n.-320T>C
ENST00000560816.5:n.20T>C
ENST00000560899.5:c.-320T>C	ENSP00000453422.1:n.-320T>C
NM_000126.3:c.461T>C	NP_000117.1:p.Leu154Pro
NM_001127716.1:c.314T>C	NP_001121188.1:p.Leu105Pro
XR_931766.1:n.516T>C
XR_931766.3:n.542T>C
NM_000126.4:c.461T>C MANE Select	NP_000117.1:p.Leu154Pro
NM_001127716.2:c.314T>C	NP_001121188.1:p.Leu105Pro