Canonical Allele Identifier: CA407082354

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51353132C>G , CM000681.2:g.51353132C>G	GRCh38
NC_000019.9:g.51856386C>G , CM000681.1:g.51856386C>G	GRCh37
NC_000019.8:g.56548198C>G	NCBI36
NG_007115.1:g.18287G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.375G>C MANE Select	NP_001976.1:p.Gln125His
ENST00000309244.9:c.375G>C MANE Select	ENSP00000311930.3:p.Gln125His
NM_001014763.1:c.648G>C	NP_001014763.1:p.Gln216His
NM_001985.2:c.375G>C	NP_001976.1:p.Gln125His
ENST00000309244.8:c.375G>C	ENSP00000311930.3:p.Gln125His
ENST00000354232.8:c.648G>C	ENSP00000346173.3:p.Gln216His
ENST00000593992.1:n.398G>C
ENST00000596253.1:c.216+1018G>C	ENSP00000469628.1:n.216+1018G>C
ENST00000600067.1:c.*301G>C	ENSP00000469452.1:n.*301G>C
XM_024451418.1:c.264G>C	XP_024307186.1:p.Gln88His