Canonical Allele Identifier: CA7232268

Gene: CHURC1-FNTB FNTB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64987050G>C , CM000676.2:g.64987050G>C	GRCh38
NC_000014.8:g.65453768G>C , CM000676.1:g.65453768G>C	GRCh37
NC_000014.7:g.64523521G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552941.6:c.176-17199G>C (CHURC1-FNTB)	ENSP00000449668.2:n.176-17199G>C
ENST00000246166.3:c.97G>C (FNTB) MANE Select	ENSP00000246166.2:p.Glu33Gln
ENST00000246166.2:c.97G>C (FNTB)	ENSP00000246166.2:p.Glu33Gln
ENST00000549987.1:c.247-17199G>C (CHURC1-FNTB)	ENSP00000447121.2:n.247-17199G>C
ENST00000551823.1:c.321-17199G>C (CHURC1-FNTB)	ENSP00000449709.1:n.321-17199G>C
ENST00000552941.5:c.187-17199G>C (CHURC1-FNTB)
ENST00000553743.5:c.92-17199G>C (CHURC1-FNTB)	ENSP00000450692.1:n.92-17199G>C
ENST00000555372.5:n.156G>C (FNTB)
NM_001202558.1:c.7-17199G>C (CHURC1-FNTB)	NP_001189487.1:n.7-17199G>C
NM_001202559.1:c.328-17199G>C (CHURC1-FNTB)	NP_001189488.1:n.328-17199G>C
NM_002028.3:c.97G>C (FNTB)	NP_002019.1:p.Glu33Gln
XR_001750792.1:n.36C>G
NM_002028.4:c.97G>C (FNTB) MANE Select	NP_002019.1:p.Glu33Gln
NM_001202558.2:c.7-17199G>C (CHURC1-FNTB)	NP_001189487.1:n.7-17199G>C