Canonical Allele Identifier: CA351297

Gene: ETFDH

Linked Data

• ClinVar Variation Id: 242522
• ClinVar RCV Id: RCV001381020
• dbSNP Id: rs863224869
• MyVariant Identifiers: chr4:g.159627799T>C (hg19) ; chr4:g.158706647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706647T>C , CM000666.2:g.158706647T>C	GRCh38
NC_000004.11:g.159627799T>C , CM000666.1:g.159627799T>C	GRCh37
NC_000004.10:g.159847249T>C	NCBI36
NG_007078.2:g.39306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681978.1:n.3023T>C
ENST00000682178.1:n.2519T>C
ENST00000682345.1:c.*1187T>C	ENSP00000508122.1:n.*1187T>C
ENST00000682452.1:n.1818T>C
ENST00000682456.1:c.1346T>C	ENSP00000508240.1:p.Leu449Pro
ENST00000682566.1:n.2270T>C
ENST00000682613.1:n.1799T>C
ENST00000682734.1:c.314T>C	ENSP00000507860.1:p.Leu105Pro
ENST00000682820.1:n.1524T>C
ENST00000683004.1:c.*1180T>C	ENSP00000506936.1:n.*1180T>C
ENST00000683079.1:c.*912T>C	ENSP00000507296.1:n.*912T>C
ENST00000683081.1:c.*1324T>C	ENSP00000507722.1:n.*1324T>C
ENST00000683181.1:n.766T>C
ENST00000683209.1:n.3813T>C
ENST00000683305.1:c.1304T>C	ENSP00000508043.1:p.Leu435Pro
ENST00000683448.1:c.*407T>C	ENSP00000506931.1:n.*407T>C
ENST00000683478.1:c.*838T>C	ENSP00000507793.1:n.*838T>C
ENST00000683483.1:c.1343T>C	ENSP00000507719.1:p.Leu448Pro
ENST00000683622.1:n.1201T>C
ENST00000683751.1:c.992T>C	ENSP00000506944.1:p.Leu331Pro
ENST00000684036.1:c.1304T>C	ENSP00000507276.1:p.Leu435Pro
ENST00000684129.1:c.314T>C	ENSP00000507174.1:p.Leu105Pro
ENST00000684209.1:n.1862T>C
ENST00000684296.1:c.*407T>C	ENSP00000507740.1:n.*407T>C
ENST00000684505.1:c.1436T>C	ENSP00000508237.1:p.Leu479Pro
ENST00000684552.1:c.*2906T>C	ENSP00000506899.1:n.*2906T>C
ENST00000684611.1:n.3215T>C
ENST00000684622.1:c.1487T>C	ENSP00000507546.1:p.Leu496Pro
ENST00000684627.1:c.1304T>C	ENSP00000507471.1:p.Leu435Pro
ENST00000684641.1:c.1202T>C	ENSP00000507642.1:p.Leu401Pro
ENST00000684675.1:c.*334T>C	ENSP00000506934.1:n.*334T>C
ENST00000684749.1:n.1556T>C
ENST00000511912.6:c.1487T>C MANE Select	ENSP00000426638.1:p.Leu496Pro
ENST00000307738.5:c.1346T>C	ENSP00000303552.5:p.Leu449Pro
ENST00000506422.1:n.457T>C
ENST00000511912.5:c.1487T>C	ENSP00000426638.1:p.Leu496Pro
NM_001281737.1:c.1346T>C	NP_001268666.1:p.Leu449Pro
NM_001281738.1:c.1304T>C	NP_001268667.1:p.Leu435Pro
NM_004453.3:c.1487T>C	NP_004444.2:p.Leu496Pro
XM_024453935.1:c.1304T>C	XP_024309703.1:p.Leu435Pro
NM_004453.4:c.1487T>C MANE Select	NP_004444.2:p.Leu496Pro
NM_001281737.2:c.1346T>C	NP_001268666.1:p.Leu449Pro