Canonical Allele Identifier: CA2244612719
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1970014889

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4902212C>T , CM000679.2:g.4902212C>T GRCh38
NC_000017.10:g.4805507C>T , CM000679.1:g.4805507C>T GRCh37
NC_000017.9:g.4746286C>T NCBI36
NG_008029.2:g.5864G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.*1679C>T (C17orf107) MANE Select ENSP00000370770.3:n.*1679C>T
ENST00000649488.2:c.344+5G>A (CHRNE) MANE Select ENSP00000497829.1:n.344+5G>A
ENST00000649830.1:c.-590+5G>A (CHRNE) ENSP00000496907.1:n.-590+5G>A
ENST00000293780.4:c.344+5G>A (CHRNE) ENSP00000293780.4:n.344+5G>A
ENST00000381365.3:c.*1679C>T (C17orf107) ENSP00000370770.3:n.*1679C>T
ENST00000575637.1:n.165+5G>A (CHRNE)
NM_000080.3:c.344+5G>A (CHRNE) NP_000071.1:n.344+5G>A
NM_001145536.1:c.*1679C>T (C17orf107) NP_001139008.1:n.*1679C>T
XM_011523612.1:c.546+1706C>T (C17orf107) XP_011521914.1:n.546+1706C>T
XM_011523631.1:c.344+5G>A (CHRNE) XP_011521933.1:n.344+5G>A
NM_000080.4:c.344+5G>A (CHRNE) MANE Select NP_000071.1:n.344+5G>A
XM_017024115.1:c.308+5G>A (CHRNE) XP_016879604.1:n.308+5G>A
XR_001752421.1:n.1189+5G>A (CHRNE)
NM_001145536.2:c.*1679C>T (C17orf107) MANE Select NP_001139008.1:n.*1679C>T