Canonical Allele Identifier: CA358563964

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706264T>C , CM000666.2:g.158706264T>C	GRCh38
NC_000004.11:g.159627416T>C , CM000666.1:g.159627416T>C	GRCh37
NC_000004.10:g.159846866T>C	NCBI36
NG_007078.2:g.38923T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1361T>C MANE Select	NP_004444.2:p.Ile454Thr
ENST00000511912.6:c.1361T>C MANE Select	ENSP00000426638.1:p.Ile454Thr
NM_001281737.1:c.1220T>C	NP_001268666.1:p.Ile407Thr
NM_001281737.2:c.1220T>C	NP_001268666.1:p.Ile407Thr
NM_001281738.1:c.1178T>C	NP_001268667.1:p.Ile393Thr
NM_004453.3:c.1361T>C	NP_004444.2:p.Ile454Thr
ENST00000307738.5:c.1220T>C	ENSP00000303552.5:p.Ile407Thr
ENST00000506422.1:n.331T>C
ENST00000511912.5:c.1361T>C	ENSP00000426638.1:p.Ile454Thr
ENST00000681978.1:n.2897T>C
ENST00000682178.1:n.2393T>C
ENST00000682345.1:c.*1061T>C	ENSP00000508122.1:n.*1061T>C
ENST00000682452.1:n.1692T>C
ENST00000682456.1:c.1220T>C	ENSP00000508240.1:p.Ile407Thr
ENST00000682566.1:n.2144T>C
ENST00000682613.1:n.1673T>C
ENST00000682734.1:c.188T>C	ENSP00000507860.1:p.Ile63Thr
ENST00000682820.1:n.1398T>C
ENST00000683004.1:c.*1054T>C	ENSP00000506936.1:n.*1054T>C
ENST00000683079.1:c.*786T>C	ENSP00000507296.1:n.*786T>C
ENST00000683081.1:c.*1198T>C	ENSP00000507722.1:n.*1198T>C
ENST00000683181.1:n.640T>C
ENST00000683209.1:n.3687T>C
ENST00000683305.1:c.1178T>C	ENSP00000508043.1:p.Ile393Thr
ENST00000683448.1:c.*281T>C	ENSP00000506931.1:n.*281T>C
ENST00000683478.1:c.*712T>C	ENSP00000507793.1:n.*712T>C
ENST00000683483.1:c.1217T>C	ENSP00000507719.1:p.Ile406Thr
ENST00000683622.1:n.1075T>C
ENST00000683751.1:c.866T>C	ENSP00000506944.1:p.Ile289Thr
ENST00000684036.1:c.1178T>C	ENSP00000507276.1:p.Ile393Thr
ENST00000684129.1:c.188T>C	ENSP00000507174.1:p.Ile63Thr
ENST00000684209.1:n.1736T>C
ENST00000684296.1:c.*281T>C	ENSP00000507740.1:n.*281T>C
ENST00000684505.1:c.1310T>C	ENSP00000508237.1:p.Ile437Thr
ENST00000684552.1:c.*2780T>C	ENSP00000506899.1:n.*2780T>C
ENST00000684611.1:n.3089T>C
ENST00000684622.1:c.1361T>C	ENSP00000507546.1:p.Ile454Thr
ENST00000684627.1:c.1178T>C	ENSP00000507471.1:p.Ile393Thr
ENST00000684641.1:c.1076T>C	ENSP00000507642.1:p.Ile359Thr
ENST00000684675.1:c.*208T>C	ENSP00000506934.1:n.*208T>C
ENST00000684749.1:n.1430T>C
XM_024453935.1:c.1178T>C	XP_024309703.1:p.Ile393Thr