Canonical Allele Identifier: CA390033557

Gene: CHURC1 CHURC1-FNTB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64914442G>A , CM000676.2:g.64914442G>A	GRCh38
NC_000014.8:g.65381160G>A , CM000676.1:g.65381160G>A	GRCh37
NC_000014.7:g.64450913G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548752.7:c.-54G>A (CHURC1)	ENSP00000450165.3:n.-54G>A
ENST00000607599.6:c.-54G>A (CHURC1)	ENSP00000475473.2:n.-54G>A
ENST00000549115.6:c.28G>A (CHURC1)	ENSP00000448050.1:p.Glu10Lys
ENST00000548752.6:c.28G>A (CHURC1)	ENSP00000450165.2:p.Glu10Lys
ENST00000549115.5:c.28G>A (CHURC1)	ENSP00000448050.1:p.Glu10Lys
ENST00000552002.6:c.-54G>A (CHURC1)	ENSP00000450144.2:n.-54G>A
ENST00000607599.5:c.28G>A (CHURC1)	ENSP00000475473.1:p.Glu10Lys
NM_001202558.1:c.-223G>A (CHURC1-FNTB)	NP_001189487.1:n.-223G>A
NM_001202559.1:c.28G>A (CHURC1-FNTB)	NP_001189488.1:p.Glu10Lys
NM_001204063.1:c.28G>A (CHURC1)	NP_001190992.1:p.Glu10Lys
NM_001204064.1:c.28G>A (CHURC1)	NP_001190993.1:p.Glu10Lys
NM_145165.3:c.28G>A (CHURC1)	NP_660148.3:p.Glu10Lys