Canonical Allele Identifier: CA7231751
Gene: CHURC1 HGNC NCBI
CHURC1-FNTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64932208G>A , CM000676.2:g.64932208G>A GRCh38
NC_000014.8:g.65398926G>A , CM000676.1:g.65398926G>A GRCh37
NC_000014.7:g.64468679G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000548752.7:c.*9G>A (CHURC1) ENSP00000450165.3:n.*9G>A
ENST00000549115.7:c.317G>A (CHURC1) MANE Select ENSP00000448050.2:p.Arg106Gln
ENST00000551093.6:c.246+6128G>A (CHURC1) ENSP00000446610.2:n.246+6128G>A
ENST00000551947.6:c.175+8082G>A (CHURC1) ENSP00000446697.2:n.175+8082G>A
ENST00000552002.7:c.317G>A (CHURC1) ENSP00000450144.2:p.Arg106Gln
ENST00000552941.6:c.175+8082G>A (CHURC1-FNTB) ENSP00000449668.2:n.175+8082G>A
ENST00000607599.6:c.320G>A (CHURC1) ENSP00000475473.2:p.Arg107Gln
ENST00000549115.6:c.398G>A (CHURC1) ENSP00000448050.1:p.Arg133Gln
ENST00000359118.6:c.319G>A (CHURC1) ENSP00000352026.3:p.Asp107Asn
ENST00000548752.6:c.327G>A (CHURC1) ENSP00000450165.2:n.327G>A
ENST00000549115.5:c.398G>A (CHURC1) ENSP00000448050.1:p.Arg133Gln
ENST00000549987.1:c.246+6128G>A (CHURC1-FNTB) ENSP00000447121.2:n.246+6128G>A
ENST00000551093.5:c.265+6128G>A (CHURC1)
ENST00000551823.1:c.236G>A (CHURC1-FNTB) ENSP00000449709.1:p.Arg79Gln
ENST00000551947.5:c.228+8082G>A (CHURC1)
ENST00000552002.6:c.317G>A (CHURC1) ENSP00000450144.2:p.Arg106Gln
ENST00000552941.5:c.186+8082G>A (CHURC1-FNTB)
ENST00000553743.5:c.91+8082G>A (CHURC1-FNTB) ENSP00000450692.1:n.91+8082G>A
ENST00000607599.5:c.401G>A (CHURC1) ENSP00000475473.1:p.Arg134Gln
NM_001202558.1:c.6+8082G>A (CHURC1-FNTB) NP_001189487.1:n.6+8082G>A
NM_001202559.1:c.327+6128G>A (CHURC1-FNTB) NP_001189488.1:n.327+6128G>A
NM_001204063.1:c.398G>A (CHURC1) NP_001190992.1:p.Arg133Gln
NM_001204064.1:c.*9G>A (CHURC1) NP_001190993.1:n.*9G>A
NM_145165.3:c.401G>A (CHURC1) NP_660148.3:p.Arg134Gln
NM_001202558.2:c.6+8082G>A (CHURC1-FNTB) NP_001189487.1:n.6+8082G>A
NM_001204064.2:c.*9G>A (CHURC1) NP_001190993.2:n.*9G>A
NM_001386928.1:c.317G>A (CHURC1) MANE Select NP_001373857.1:p.Arg106Gln
NM_145165.4:c.320G>A (CHURC1) NP_660148.4:p.Arg107Gln