Canonical Allele Identifier: CA8314074
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Linked Data

ClinVar Variation Id: 465849
dbSNP Id: rs139922367
gnomAD v2: 17-4802776-G-A
gnomAD v3: 17-4899481-G-A
gnomAD v4: 17-4899481-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899481G>A , CM000679.2:g.4899481G>A GRCh38
NC_000017.10:g.4802776G>A , CM000679.1:g.4802776G>A GRCh37
NC_000017.9:g.4743555G>A NCBI36
NG_008029.2:g.8595C>T
NG_028005.1:g.71142G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1019C>T (CHRNE) MANE Select ENSP00000497829.1:p.Pro340Leu
ENST00000649830.1:c.86C>T (CHRNE) ENSP00000496907.1:p.Pro29Leu
ENST00000652550.1:n.749C>T (CHRNE)
ENST00000293780.4:c.1019C>T (CHRNE) ENSP00000293780.4:p.Pro340Leu
ENST00000521575.1:c.-282G>A (C17orf107) ENSP00000429241.1:n.-282G>A
ENST00000572438.1:n.705C>T (CHRNE)
NM_000080.3:c.1019C>T (CHRNE) NP_000071.1:p.Pro340Leu
XM_011523612.1:c.-282G>A (C17orf107) XP_011521914.1:n.-282G>A
NM_000080.4:c.1019C>T (CHRNE) MANE Select NP_000071.1:p.Pro340Leu
XM_017024115.1:c.983C>T (CHRNE) XP_016879604.1:p.Pro328Leu
XR_001752421.1:n.1749C>T (CHRNE)