Canonical Allele Identifier: CA8313814
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs781565995
gnomAD v2: 17-4802057-G-A
gnomAD v3: 17-4898762-G-A
gnomAD v4: 17-4898762-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898762G>A , CM000679.2:g.4898762G>A GRCh38
NC_000017.10:g.4802057G>A , CM000679.1:g.4802057G>A GRCh37
NC_000017.9:g.4742836G>A NCBI36
NG_008029.2:g.9314C>T
NG_028005.1:g.70423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1456C>T MANE Select ENSP00000497829.1:p.Pro486Ser
ENST00000649830.1:c.*92C>T ENSP00000496907.1:n.*92C>T
ENST00000652550.1:n.1182C>T
ENST00000293780.4:c.1456C>T ENSP00000293780.4:p.Pro486Ser
ENST00000572438.1:n.1142C>T
NM_000080.3:c.1456C>T NP_000071.1:p.Pro486Ser
NM_000080.4:c.1456C>T MANE Select NP_000071.1:p.Pro486Ser
XM_017024115.1:c.1420C>T XP_016879604.1:p.Pro474Ser