Canonical Allele Identifier: CA14781993
Gene: CHRNA4 HGNC NCBI
COSMIC:
COSN17489221 (not active)
MyVariant.info:
GRCh38 chr20:g.63347748G>A
GRCh37 chr20:g.61979100G>A
gnomAD v2:
20:61979100 G / A
gnomAD v3:
20:63347748 G / A
gnomAD v4:
chr20-63347748-G-A
Joint Max Group AF 0.56197565 (NFE)
Genomes Max Group AF 0.56197565 (NFE)
dbSNP:
3787137
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63347748G>A , CM000682.2:g.63347748G>A GRCh38
NC_000020.10:g.61979100G>A , CM000682.1:g.61979100G>A GRCh37
NC_000020.9:g.61449544G>A NCBI36
NG_011931.1:g.18596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.1759-885C>T MANE Select ENSP00000359285.4:n.1759-885C>T
ENST00000370263.8:c.1759-885C>T ENSP00000359285.4:n.1759-885C>T
ENST00000463705.5:n.2407-885C>T
ENST00000467563.3:n.1829-885C>T
ENST00000498043.6:c.1783-885C>T
ENST00000615287.4:c.1546-885C>T ENSP00000483388.1:n.1546-885C>T
ENST00000627000.1:c.*1448-885C>T ENSP00000486914.1:n.*1448-885C>T
NM_000744.6:c.1759-885C>T NP_000735.1:n.1759-885C>T
NM_001256573.1:c.1231-885C>T NP_001243502.1:n.1231-885C>T
NR_046317.1:n.2015-885C>T
XM_011528524.1:c.1546-885C>T XP_011526826.1:n.1546-885C>T
XM_017027625.2:c.1231-885C>T XP_016883114.1:n.1231-885C>T
XM_024451822.1:c.1231-885C>T XP_024307590.1:n.1231-885C>T
NM_001256573.2:c.1231-885C>T NP_001243502.1:n.1231-885C>T
NR_046317.2:n.1968-885C>T
NM_000744.7:c.1759-885C>T MANE Select NP_000735.1:n.1759-885C>T
Search 100 bp 5'
Search 100 bp 3'