Canonical Allele Identifier: CA397300788
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899475A>T , CM000679.2:g.4899475A>T GRCh38
NC_000017.10:g.4802770A>T , CM000679.1:g.4802770A>T GRCh37
NC_000017.9:g.4743549A>T NCBI36
NG_008029.2:g.8601T>A
NG_028005.1:g.71136A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1025T>A (CHRNE) MANE Select ENSP00000497829.1:p.Leu342Gln
ENST00000649830.1:c.92T>A (CHRNE) ENSP00000496907.1:p.Leu31Gln
ENST00000652550.1:n.755T>A (CHRNE)
ENST00000293780.4:c.1025T>A (CHRNE) ENSP00000293780.4:p.Leu342Gln
ENST00000521575.1:c.-288A>T (C17orf107) ENSP00000429241.1:n.-288A>T
ENST00000572438.1:n.711T>A (CHRNE)
NM_000080.3:c.1025T>A (CHRNE) NP_000071.1:p.Leu342Gln
XM_011523612.1:c.-288A>T (C17orf107) XP_011521914.1:n.-288A>T
NM_000080.4:c.1025T>A (CHRNE) MANE Select NP_000071.1:p.Leu342Gln
XM_017024115.1:c.989T>A (CHRNE) XP_016879604.1:p.Leu330Gln
XR_001752421.1:n.1755T>A (CHRNE)