Canonical Allele Identifier: CA9957713

Gene: CHRNA4

Linked Data

• dbSNP Id: rs376633839
• ExAC: 20:61981888 A / G
• gnomAD v2: 20-61981888-A-G
• gnomAD v3: 20-63350536-A-G
• gnomAD v4: 20-63350536-A-G
• MyVariant Identifiers: chr20:g.61981888A>G (hg19) ; chr20:g.63350536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350536A>G , CM000682.2:g.63350536A>G	GRCh38
NC_000020.10:g.61981888A>G , CM000682.1:g.61981888A>G	GRCh37
NC_000020.9:g.61452332A>G	NCBI36
NG_011931.1:g.15808T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.875T>C MANE Select	ENSP00000359285.4:p.Ile292Thr
ENST00000370263.8:c.875T>C	ENSP00000359285.4:p.Ile292Thr
ENST00000463705.5:n.1523T>C
ENST00000467563.3:n.945T>C
ENST00000498043.6:c.899T>C
ENST00000615287.4:c.662T>C	ENSP00000483388.1:p.Ile221Thr
ENST00000627000.1:c.*564T>C	ENSP00000486914.1:n.*564T>C
ENST00000630240.1:n.596T>C
NM_000744.6:c.875T>C	NP_000735.1:p.Ile292Thr
NM_001256573.1:c.347T>C	NP_001243502.1:p.Ile116Thr
NR_046317.1:n.1131T>C
XM_011528524.1:c.662T>C	XP_011526826.1:p.Ile221Thr
XM_017027625.2:c.347T>C	XP_016883114.1:p.Ile116Thr
XM_024451822.1:c.347T>C	XP_024307590.1:p.Ile116Thr
NM_001256573.2:c.347T>C	NP_001243502.1:p.Ile116Thr
NR_046317.2:n.1084T>C
NM_000744.7:c.875T>C MANE Select	NP_000735.1:p.Ile292Thr