Canonical Allele Identifier: CA15818902

Gene: CHURC1-FNTB FNTB MAX

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65035521G>A , CM000676.2:g.65035521G>A	GRCh38
NC_000014.8:g.65502239G>A , CM000676.1:g.65502239G>A	GRCh37
NC_000014.7:g.64571992G>A	NCBI36
NG_029830.1:g.71989C>T , LRG_530:g.71989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552941.6:c.*411+2825G>A (CHURC1-FNTB)	ENSP00000449668.2:n.*411+2825G>A
ENST00000246166.3:c.692+2825G>A (FNTB) MANE Select	ENSP00000246166.2:n.692+2825G>A
ENST00000246166.2:c.692+2825G>A (FNTB)	ENSP00000246166.2:n.692+2825G>A
ENST00000341653.6:c.172-29237C>T (MAX)	ENSP00000342482.2:n.172-29237C>T
ENST00000549987.1:c.794+2825G>A (CHURC1-FNTB)	ENSP00000447121.2:n.794+2825G>A
ENST00000552941.5:c.734+2825G>A (CHURC1-FNTB)
ENST00000554334.5:n.660+2825G>A (FNTB)
ENST00000556709.1:n.471+2825G>A (FNTB)
NM_001202558.1:c.554+2825G>A (CHURC1-FNTB)	NP_001189487.1:n.554+2825G>A
NM_001202559.1:c.875+2825G>A (CHURC1-FNTB)	NP_001189488.1:n.875+2825G>A
NM_001271069.1:c.145-29237C>T (MAX)	NP_001257998.1:n.145-29237C>T
NM_002028.3:c.692+2825G>A (FNTB)	NP_002019.1:n.692+2825G>A
NM_197957.3:c.172-29237C>T (MAX)	NP_932061.1:n.172-29237C>T
NM_002028.4:c.692+2825G>A (FNTB) MANE Select	NP_002019.1:n.692+2825G>A
NM_001202558.2:c.554+2825G>A (CHURC1-FNTB)	NP_001189487.1:n.554+2825G>A
NM_001271069.2:c.145-29237C>T (MAX)	NP_001257998.1:n.145-29237C>T
NM_197957.4:c.172-29237C>T (MAX)	NP_932061.1:n.172-29237C>T