Canonical Allele Identifier: CA393513834

Gene: ETFA

Linked Data

• MyVariant Identifiers: chr15:g.76578805C>A (hg19) ; chr15:g.76286464C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76286464C>A , CM000677.2:g.76286464C>A	GRCh38
NC_000015.9:g.76578805C>A , CM000677.1:g.76578805C>A	GRCh37
NC_000015.8:g.74365860C>A	NCBI36
NG_007077.2:g.30006G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559386.2:c.469G>T	ENSP00000452777.2:p.Val157Leu
ENST00000560044.6:c.*464G>T	ENSP00000452942.1:n.*464G>T
ENST00000560595.6:c.469G>T	ENSP00000453345.2:p.Val157Leu
ENST00000565910.6:c.469G>T	ENSP00000458001.2:p.Val157Leu
ENST00000685118.1:c.*464G>T	ENSP00000509473.1:n.*464G>T
ENST00000685548.1:c.469G>T	ENSP00000510343.1:p.Val157Leu
ENST00000685863.1:c.322G>T	ENSP00000509361.1:p.Val108Leu
ENST00000687293.1:c.469G>T	ENSP00000509928.1:p.Val157Leu
ENST00000687975.1:c.*345G>T	ENSP00000508690.1:n.*345G>T
ENST00000688154.1:c.469G>T	ENSP00000510637.1:p.Val157Leu
ENST00000688389.1:c.469G>T	ENSP00000510491.1:p.Val157Leu
ENST00000688637.1:n.550G>T
ENST00000688908.1:c.305-1G>T	ENSP00000510242.1:n.305-1G>T
ENST00000689120.1:n.553G>T
ENST00000689730.1:c.452-1G>T	ENSP00000510006.1:n.452-1G>T
ENST00000689739.1:n.550G>T
ENST00000690610.1:c.469G>T	ENSP00000510473.1:p.Val157Leu
ENST00000691021.1:c.*464G>T	ENSP00000510805.1:n.*464G>T
ENST00000691071.1:n.248G>T
ENST00000691695.1:c.322G>T	ENSP00000509402.1:p.Val108Leu
ENST00000692691.1:c.469G>T	ENSP00000508808.1:p.Val157Leu
ENST00000693064.1:c.*444G>T	ENSP00000510720.1:n.*444G>T
ENST00000557943.6:c.469G>T MANE Select	ENSP00000452762.1:p.Val157Leu
ENST00000267950.12:c.*192G>T	ENSP00000267950.8:n.*192G>T
ENST00000433983.6:c.322G>T	ENSP00000399273.2:p.Val108Leu
ENST00000557943.5:c.469G>T	ENSP00000452762.1:p.Val157Leu
ENST00000559075.5:n.493G>T
ENST00000559386.1:c.469G>T	ENSP00000452777.1:p.Val157Leu
ENST00000559602.5:c.157G>T	ENSP00000452659.1:p.Val53Leu
ENST00000559758.5:n.310G>T
ENST00000559973.5:c.179G>T
ENST00000560044.5:c.*464G>T	ENSP00000452942.1:n.*464G>T
ENST00000560309.5:c.*382G>T	ENSP00000453753.1:n.*382G>T
ENST00000560345.5:c.281G>T
ENST00000560595.5:c.469G>T	ENSP00000453345.1:p.Val157Leu
ENST00000560726.5:c.-312G>T	ENSP00000453098.1:n.-312G>T
ENST00000560816.5:n.28G>T
ENST00000560899.5:c.-312G>T	ENSP00000453422.1:n.-312G>T
NM_000126.3:c.469G>T	NP_000117.1:p.Val157Leu
NM_001127716.1:c.322G>T	NP_001121188.1:p.Val108Leu
XR_931766.1:n.524G>T
XR_931766.3:n.550G>T
NM_000126.4:c.469G>T MANE Select	NP_000117.1:p.Val157Leu
NM_001127716.2:c.322G>T	NP_001121188.1:p.Val108Leu