Canonical Allele Identifier: CA147539

Gene: ETFB

Linked Data

• ClinVar Variation Id: 94018
• ClinVar RCV Id: RCV000079961 ; RCV000991043 ; RCV000676879
• dbSNP Id: rs1130426
• ExAC: 19:51850290 G / A
• gnomAD v2: 19-51850290-G-A
• gnomAD v3: 19-51347036-G-A
• gnomAD v4: 19-51347036-G-A
• MyVariant Identifiers: chr19:g.51850290G>A (hg19) ; chr19:g.51347036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51347036G>A , CM000681.2:g.51347036G>A	GRCh38
NC_000019.9:g.51850290G>A , CM000681.1:g.51850290G>A	GRCh37
NC_000019.8:g.56542102G>A	NCBI36
NG_007115.1:g.24383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309244.9:c.461C>T MANE Select	ENSP00000311930.3:p.Thr154Met
ENST00000309244.8:c.461C>T	ENSP00000311930.3:p.Thr154Met
ENST00000354232.8:c.734C>T	ENSP00000346173.3:p.Thr245Met
ENST00000594361.1:n.1495C>T
ENST00000596253.1:c.302C>T	ENSP00000469628.1:p.Thr101Met
NM_001014763.1:c.734C>T	NP_001014763.1:p.Thr245Met
NM_001985.2:c.461C>T	NP_001976.1:p.Thr154Met
XM_024451418.1:c.350C>T	XP_024307186.1:p.Thr117Met
NM_001985.3:c.461C>T MANE Select	NP_001976.1:p.Thr154Met