Canonical Allele Identifier: CA409635634

Gene: CHRNA4

Linked Data

• dbSNP Id: rs281865068
• gnomAD v2: 20-61981756-C-G
• MyVariant Identifiers: chr20:g.61981756C>G (hg19) ; chr20:g.63350404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350404C>G , CM000682.2:g.63350404C>G	GRCh38
NC_000020.10:g.61981756C>G , CM000682.1:g.61981756C>G	GRCh37
NC_000020.9:g.61452200C>G	NCBI36
NG_011931.1:g.15940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1007G>C MANE Select	ENSP00000359285.4:p.Arg336Pro
ENST00000370263.8:c.1007G>C	ENSP00000359285.4:p.Arg336Pro
ENST00000463705.5:n.1655G>C
ENST00000467563.3:n.1077G>C
ENST00000498043.6:c.1031G>C
ENST00000615287.4:c.794G>C	ENSP00000483388.1:p.Arg265Pro
ENST00000627000.1:c.*696G>C	ENSP00000486914.1:n.*696G>C
ENST00000630240.1:n.728G>C
NM_000744.6:c.1007G>C	NP_000735.1:p.Arg336Pro
NM_001256573.1:c.479G>C	NP_001243502.1:p.Arg160Pro
NR_046317.1:n.1263G>C
XM_011528524.1:c.794G>C	XP_011526826.1:p.Arg265Pro
XM_017027625.2:c.479G>C	XP_016883114.1:p.Arg160Pro
XM_024451822.1:c.479G>C	XP_024307590.1:p.Arg160Pro
NM_001256573.2:c.479G>C	NP_001243502.1:p.Arg160Pro
NR_046317.2:n.1216G>C
NM_000744.7:c.1007G>C MANE Select	NP_000735.1:p.Arg336Pro