Canonical Allele Identifier: CA407082349

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51353131C>T , CM000681.2:g.51353131C>T	GRCh38
NC_000019.9:g.51856385C>T , CM000681.1:g.51856385C>T	GRCh37
NC_000019.8:g.56548197C>T	NCBI36
NG_007115.1:g.18288G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.375+1G>A MANE Select	NP_001976.1:n.375+1G>A
ENST00000309244.9:c.375+1G>A MANE Select	ENSP00000311930.3:n.375+1G>A
NM_001014763.1:c.648+1G>A	NP_001014763.1:n.648+1G>A
NM_001985.2:c.375+1G>A	NP_001976.1:n.375+1G>A
ENST00000309244.8:c.375+1G>A	ENSP00000311930.3:n.375+1G>A
ENST00000354232.8:c.648+1G>A	ENSP00000346173.3:n.648+1G>A
ENST00000593992.1:n.398+1G>A
ENST00000596253.1:c.216+1019G>A	ENSP00000469628.1:n.216+1019G>A
ENST00000600067.1:c.*301+1G>A	ENSP00000469452.1:n.*301+1G>A
XM_024451418.1:c.264+1G>A	XP_024307186.1:n.264+1G>A