Canonical Allele Identifier: CA397297156
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1193224043
gnomAD v2: 17-4802036-G-A
gnomAD v4: 17-4898741-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898741G>A , CM000679.2:g.4898741G>A GRCh38
NC_000017.10:g.4802036G>A , CM000679.1:g.4802036G>A GRCh37
NC_000017.9:g.4742815G>A NCBI36
NG_008029.2:g.9335C>T
NG_028005.1:g.70402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1477C>T MANE Select ENSP00000497829.1:p.Pro493Ser
ENST00000649830.1:c.*113C>T ENSP00000496907.1:n.*113C>T
ENST00000652550.1:n.1203C>T
ENST00000293780.4:c.1477C>T ENSP00000293780.4:p.Pro493Ser
ENST00000572438.1:n.1163C>T
NM_000080.3:c.1477C>T NP_000071.1:p.Pro493Ser
NM_000080.4:c.1477C>T MANE Select NP_000071.1:p.Pro493Ser
XM_017024115.1:c.1441C>T XP_016879604.1:p.Pro481Ser