Canonical Allele Identifier: CA409637251

Gene: CHRNA4

Linked Data

• gnomAD v3: 20-63350746-T-G
• gnomAD v4: 20-63350746-T-G
• MyVariant Identifiers: chr20:g.61982098T>G (hg19) ; chr20:g.63350746T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350746T>G , CM000682.2:g.63350746T>G	GRCh38
NC_000020.10:g.61982098T>G , CM000682.1:g.61982098T>G	GRCh37
NC_000020.9:g.61452542T>G	NCBI36
NG_011931.1:g.15598A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.665A>C MANE Select	ENSP00000359285.4:p.Lys222Thr
ENST00000370263.8:c.665A>C	ENSP00000359285.4:p.Lys222Thr
ENST00000463705.5:n.1313A>C
ENST00000467563.3:n.735A>C
ENST00000498043.6:c.689A>C
ENST00000615287.4:c.452A>C	ENSP00000483388.1:p.Lys151Thr
ENST00000627000.1:c.*354A>C	ENSP00000486914.1:n.*354A>C
ENST00000630240.1:n.386A>C
NM_000744.6:c.665A>C	NP_000735.1:p.Lys222Thr
NM_001256573.1:c.137A>C	NP_001243502.1:p.Lys46Thr
NR_046317.1:n.921A>C
XM_011528524.1:c.452A>C	XP_011526826.1:p.Lys151Thr
XM_017027625.2:c.137A>C	XP_016883114.1:p.Lys46Thr
XM_024451822.1:c.137A>C	XP_024307590.1:p.Lys46Thr
NM_001256573.2:c.137A>C	NP_001243502.1:p.Lys46Thr
NR_046317.2:n.874A>C
NM_000744.7:c.665A>C MANE Select	NP_000735.1:p.Lys222Thr