Canonical Allele Identifier: CA312500

Gene: ETFB

Linked Data

• ClinVar Variation Id: 203700
• ClinVar RCV Id: RCV000416208 ; RCV000809414 ; RCV002516967
• dbSNP Id: rs149129214
• ExAC: 19:51848524 C / T
• gnomAD v2: 19-51848524-C-T
• gnomAD v3: 19-51345270-C-T
• gnomAD v4: 19-51345270-C-T
• MyVariant Identifiers: chr19:g.51848524C>T (hg19) ; chr19:g.51345270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51345270C>T , CM000681.2:g.51345270C>T	GRCh38
NC_000019.9:g.51848524C>T , CM000681.1:g.51848524C>T	GRCh37
NC_000019.8:g.56540336C>T	NCBI36
NG_007115.1:g.26149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309244.9:c.709G>A MANE Select	ENSP00000311930.3:p.Val237Ile
ENST00000309244.8:c.709G>A	ENSP00000311930.3:p.Val237Ile
ENST00000354232.8:c.982G>A	ENSP00000346173.3:p.Val328Ile
NM_001014763.1:c.982G>A	NP_001014763.1:p.Val328Ile
NM_001985.2:c.709G>A	NP_001976.1:p.Val237Ile
XM_024451418.1:c.598G>A	XP_024307186.1:p.Val200Ile
NM_001985.3:c.709G>A MANE Select	NP_001976.1:p.Val237Ile