Canonical Allele Identifier: CA442139559

Gene: ETFDH

Linked Data

• dbSNP Id: rs1374492286
• gnomAD v2: 4-159624589-C-T
• gnomAD v4: 4-158703437-C-T
• MyVariant Identifiers: chr4:g.159624589C>T (hg19) ; chr4:g.158703437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703437C>T , CM000666.2:g.158703437C>T	GRCh38
NC_000004.11:g.159624589C>T , CM000666.1:g.159624589C>T	GRCh37
NC_000004.10:g.159844039C>T	NCBI36
NG_007078.2:g.36096C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681978.1:n.2667C>T
ENST00000682178.1:n.2163C>T
ENST00000682345.1:c.*831C>T	ENSP00000508122.1:n.*831C>T
ENST00000682452.1:n.1462C>T
ENST00000682456.1:c.990C>T	ENSP00000508240.1:p.Leu330=
ENST00000682566.1:n.1914C>T
ENST00000682613.1:n.1443C>T
ENST00000682734.1:c.-43C>T	ENSP00000507860.1:n.-43C>T
ENST00000682820.1:n.1168C>T
ENST00000683004.1:c.*824C>T	ENSP00000506936.1:n.*824C>T
ENST00000683079.1:c.*556C>T	ENSP00000507296.1:n.*556C>T
ENST00000683081.1:c.*968C>T	ENSP00000507722.1:n.*968C>T
ENST00000683181.1:n.410C>T
ENST00000683209.1:n.3457C>T
ENST00000683305.1:c.948C>T	ENSP00000508043.1:p.Leu316=
ENST00000683448.1:c.*51C>T	ENSP00000506931.1:n.*51C>T
ENST00000683478.1:c.*482C>T	ENSP00000507793.1:n.*482C>T
ENST00000683483.1:c.987C>T	ENSP00000507719.1:p.Leu329=
ENST00000683622.1:n.845C>T
ENST00000683751.1:c.636C>T	ENSP00000506944.1:p.Leu212=
ENST00000684036.1:c.948C>T	ENSP00000507276.1:p.Leu316=
ENST00000684129.1:c.-43C>T	ENSP00000507174.1:n.-43C>T
ENST00000684209.1:n.1506C>T
ENST00000684296.1:c.*51C>T	ENSP00000507740.1:n.*51C>T
ENST00000684505.1:c.1080C>T	ENSP00000508237.1:p.Leu360=
ENST00000684552.1:c.*51C>T	ENSP00000506899.1:n.*51C>T
ENST00000684611.1:n.2859C>T
ENST00000684622.1:c.1131C>T	ENSP00000507546.1:p.Leu377=
ENST00000684627.1:c.948C>T	ENSP00000507471.1:p.Leu316=
ENST00000684641.1:c.846C>T	ENSP00000507642.1:p.Leu282=
ENST00000684675.1:c.1172C>T	ENSP00000506934.1:p.Ser391Leu
ENST00000684749.1:n.1200C>T
ENST00000511912.6:c.1131C>T MANE Select	ENSP00000426638.1:p.Leu377=
ENST00000307738.5:c.990C>T	ENSP00000303552.5:p.Leu330=
ENST00000506422.1:n.101C>T
ENST00000511912.5:c.1131C>T	ENSP00000426638.1:p.Leu377=
NM_001281737.1:c.990C>T	NP_001268666.1:p.Leu330=
NM_001281738.1:c.948C>T	NP_001268667.1:p.Leu316=
NM_004453.3:c.1131C>T	NP_004444.2:p.Leu377=
XM_024453935.1:c.948C>T	XP_024309703.1:p.Leu316=
NM_004453.4:c.1131C>T MANE Select	NP_004444.2:p.Leu377=
NM_001281737.2:c.990C>T	NP_001268666.1:p.Leu330=