Canonical Allele Identifier: CA2635576279

Gene: C17orf107 CHRNE

Linked Data

• gnomAD v4: 17-4902213-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902213T>G , CM000679.2:g.4902213T>G	GRCh38
NC_000017.10:g.4805508T>G , CM000679.1:g.4805508T>G	GRCh37
NC_000017.9:g.4746287T>G	NCBI36
NG_008029.2:g.5863A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*1680T>G (C17orf107) MANE Select	ENSP00000370770.3:n.*1680T>G
ENST00000649488.2:c.344+4A>C (CHRNE) MANE Select	ENSP00000497829.1:n.344+4A>C
ENST00000649830.1:c.-590+4A>C (CHRNE)	ENSP00000496907.1:n.-590+4A>C
ENST00000293780.4:c.344+4A>C (CHRNE)	ENSP00000293780.4:n.344+4A>C
ENST00000381365.3:c.*1680T>G (C17orf107)	ENSP00000370770.3:n.*1680T>G
ENST00000575637.1:n.165+4A>C (CHRNE)
NM_000080.3:c.344+4A>C (CHRNE)	NP_000071.1:n.344+4A>C
NM_001145536.1:c.*1680T>G (C17orf107)	NP_001139008.1:n.*1680T>G
XM_011523612.1:c.546+1707T>G (C17orf107)	XP_011521914.1:n.546+1707T>G
XM_011523631.1:c.344+4A>C (CHRNE)	XP_011521933.1:n.344+4A>C
NM_000080.4:c.344+4A>C (CHRNE) MANE Select	NP_000071.1:n.344+4A>C
XM_017024115.1:c.308+4A>C (CHRNE)	XP_016879604.1:n.308+4A>C
XR_001752421.1:n.1189+4A>C (CHRNE)
NM_001145536.2:c.*1680T>G (C17orf107) MANE Select	NP_001139008.1:n.*1680T>G