Canonical Allele Identifier: CA397306332
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1207619232
gnomAD v2: 17-4805357-A-G
gnomAD v3: 17-4902062-A-G
gnomAD v4: 17-4902062-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4902062A>G , CM000679.2:g.4902062A>G GRCh38
NC_000017.10:g.4805357A>G , CM000679.1:g.4805357A>G GRCh37
NC_000017.9:g.4746136A>G NCBI36
NG_008029.2:g.6014T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.*1529A>G (C17orf107) MANE Select ENSP00000370770.3:n.*1529A>G
ENST00000649488.2:c.370T>C (CHRNE) MANE Select ENSP00000497829.1:p.Tyr124His
ENST00000649830.1:c.-564T>C (CHRNE) ENSP00000496907.1:n.-564T>C
ENST00000293780.4:c.370T>C (CHRNE) ENSP00000293780.4:p.Tyr124His
ENST00000381365.3:c.*1529A>G (C17orf107) ENSP00000370770.3:n.*1529A>G
ENST00000575637.1:n.191T>C (CHRNE)
NM_000080.3:c.370T>C (CHRNE) NP_000071.1:p.Tyr124His
NM_001145536.1:c.*1529A>G (C17orf107) NP_001139008.1:n.*1529A>G
XM_011523612.1:c.546+1556A>G (C17orf107) XP_011521914.1:n.546+1556A>G
XM_011523631.1:c.370T>C (CHRNE) XP_011521933.1:p.Tyr124His
NM_000080.4:c.370T>C (CHRNE) MANE Select NP_000071.1:p.Tyr124His
XM_017024115.1:c.334T>C (CHRNE) XP_016879604.1:p.Tyr112His
XR_001752421.1:n.1215T>C (CHRNE)
NM_001145536.2:c.*1529A>G (C17orf107) MANE Select NP_001139008.1:n.*1529A>G