Canonical Allele Identifier: CA358563102
Community Standard Title: NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)
Gene: ETFDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158703580C>G , CM000666.2:g.158703580C>G GRCh38
NC_000004.11:g.159624732C>G , CM000666.1:g.159624732C>G GRCh37
NC_000004.10:g.159844182C>G NCBI36
NG_007078.2:g.36239C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004453.4:c.1274C>G MANE Select NP_004444.2:p.Ser425Ter
ENST00000511912.6:c.1274C>G MANE Select ENSP00000426638.1:p.Ser425Ter
NM_001281737.1:c.1133C>G NP_001268666.1:p.Ser378Ter
NM_001281737.2:c.1133C>G NP_001268666.1:p.Ser378Ter
NM_001281738.1:c.1091C>G NP_001268667.1:p.Ser364Ter
NM_004453.3:c.1274C>G NP_004444.2:p.Ser425Ter
ENST00000307738.5:c.1133C>G ENSP00000303552.5:p.Ser378Ter
ENST00000506422.1:n.244C>G
ENST00000511912.5:c.1274C>G ENSP00000426638.1:p.Ser425Ter
ENST00000681978.1:n.2810C>G
ENST00000682178.1:n.2306C>G
ENST00000682345.1:c.*974C>G ENSP00000508122.1:n.*974C>G
ENST00000682452.1:n.1605C>G
ENST00000682456.1:c.1133C>G ENSP00000508240.1:p.Ser378Ter
ENST00000682566.1:n.2057C>G
ENST00000682613.1:n.1586C>G
ENST00000682734.1:c.101C>G ENSP00000507860.1:p.Ser34Ter
ENST00000682820.1:n.1311C>G
ENST00000683004.1:c.*967C>G ENSP00000506936.1:n.*967C>G
ENST00000683079.1:c.*699C>G ENSP00000507296.1:n.*699C>G
ENST00000683081.1:c.*1111C>G ENSP00000507722.1:n.*1111C>G
ENST00000683181.1:n.553C>G
ENST00000683209.1:n.3600C>G
ENST00000683305.1:c.1091C>G ENSP00000508043.1:p.Ser364Ter
ENST00000683448.1:c.*194C>G ENSP00000506931.1:n.*194C>G
ENST00000683478.1:c.*625C>G ENSP00000507793.1:n.*625C>G
ENST00000683483.1:c.1130C>G ENSP00000507719.1:p.Ser377Ter
ENST00000683622.1:n.988C>G
ENST00000683751.1:c.779C>G ENSP00000506944.1:p.Ser260Ter
ENST00000684036.1:c.1091C>G ENSP00000507276.1:p.Ser364Ter
ENST00000684129.1:c.101C>G ENSP00000507174.1:p.Ser34Ter
ENST00000684209.1:n.1649C>G
ENST00000684296.1:c.*194C>G ENSP00000507740.1:n.*194C>G
ENST00000684505.1:c.1223C>G ENSP00000508237.1:p.Ser408Ter
ENST00000684552.1:c.*194C>G ENSP00000506899.1:n.*194C>G
ENST00000684611.1:n.3002C>G
ENST00000684622.1:c.1274C>G ENSP00000507546.1:p.Ser425Ter
ENST00000684627.1:c.1091C>G ENSP00000507471.1:p.Ser364Ter
ENST00000684641.1:c.989C>G ENSP00000507642.1:p.Ser330Ter
ENST00000684675.1:c.*121C>G ENSP00000506934.1:n.*121C>G
ENST00000684749.1:n.1343C>G
XM_024453935.1:c.1091C>G XP_024309703.1:p.Ser364Ter