Canonical Allele Identifier: CA312549

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708525T>C , CM000666.2:g.158708525T>C	GRCh38
NC_000004.11:g.159629677T>C , CM000666.1:g.159629677T>C	GRCh37
NC_000004.10:g.159849127T>C	NCBI36
NG_007078.2:g.41184T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1852T>C MANE Select	NP_004444.2:p.Ter618Gln
ENST00000511912.6:c.1852T>C MANE Select	ENSP00000426638.1:p.Ter618Gln
NM_001281737.1:c.1711T>C	NP_001268666.1:p.Ter571Gln
NM_001281737.2:c.1711T>C	NP_001268666.1:p.Ter571Gln
NM_001281738.1:c.1669T>C	NP_001268667.1:p.Ter557Gln
NM_004453.3:c.1852T>C	NP_004444.2:p.Ter618Gln
ENST00000307738.5:c.1711T>C	ENSP00000303552.5:p.Ter571Gln
ENST00000506422.1:n.822T>C
ENST00000511912.5:c.1852T>C	ENSP00000426638.1:p.Ter618Gln
ENST00000681978.1:n.3388T>C
ENST00000682178.1:n.2884T>C
ENST00000682345.1:c.*1552T>C	ENSP00000508122.1:n.*1552T>C
ENST00000682452.1:n.2183T>C
ENST00000682456.1:c.1711T>C	ENSP00000508240.1:p.Ter571Gln
ENST00000682566.1:n.2635T>C
ENST00000682613.1:n.2164T>C
ENST00000682734.1:c.679T>C	ENSP00000507860.1:p.Ter227Gln
ENST00000682820.1:n.1889T>C
ENST00000683004.1:c.*1545T>C	ENSP00000506936.1:n.*1545T>C
ENST00000683079.1:c.*1277T>C	ENSP00000507296.1:n.*1277T>C
ENST00000683081.1:c.*1689T>C	ENSP00000507722.1:n.*1689T>C
ENST00000683181.1:n.1131T>C
ENST00000683209.1:n.4178T>C
ENST00000683305.1:c.1669T>C	ENSP00000508043.1:p.Ter557Gln
ENST00000683448.1:c.*772T>C	ENSP00000506931.1:n.*772T>C
ENST00000683478.1:c.*1203T>C	ENSP00000507793.1:n.*1203T>C
ENST00000683483.1:c.1708T>C	ENSP00000507719.1:p.Ter570Gln
ENST00000683622.1:n.3079T>C
ENST00000683751.1:c.1357T>C	ENSP00000506944.1:p.Ter453Gln
ENST00000684036.1:c.1669T>C	ENSP00000507276.1:p.Ter557Gln
ENST00000684129.1:c.679T>C	ENSP00000507174.1:p.Ter227Gln
ENST00000684209.1:n.2227T>C
ENST00000684296.1:c.*772T>C	ENSP00000507740.1:n.*772T>C
ENST00000684505.1:c.1801T>C	ENSP00000508237.1:p.Ter601Gln
ENST00000684552.1:c.*3271T>C	ENSP00000506899.1:n.*3271T>C
ENST00000684611.1:n.3580T>C
ENST00000684627.1:c.1669T>C	ENSP00000507471.1:p.Ter557Gln
ENST00000684641.1:c.1567T>C	ENSP00000507642.1:p.Ter523Gln
ENST00000684675.1:c.*699T>C	ENSP00000506934.1:n.*699T>C
ENST00000684749.1:n.1921T>C
XM_024453935.1:c.1669T>C	XP_024309703.1:p.Ter557Gln