Canonical Allele Identifier: CA409632876

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 857209
• ClinVar RCV Id: RCV001062837
• dbSNP Id: rs1445972429
• gnomAD v2: 20-61981189-T-C
• gnomAD v4: 20-63349837-T-C
• MyVariant Identifiers: chr20:g.61981189T>C (hg19) ; chr20:g.63349837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349837T>C , CM000682.2:g.63349837T>C	GRCh38
NC_000020.10:g.61981189T>C , CM000682.1:g.61981189T>C	GRCh37
NC_000020.9:g.61451633T>C	NCBI36
NG_011931.1:g.16507A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1574A>G MANE Select	ENSP00000359285.4:p.Gln525Arg
ENST00000370263.8:c.1574A>G	ENSP00000359285.4:p.Gln525Arg
ENST00000463705.5:n.2222A>G
ENST00000467563.3:n.1644A>G
ENST00000498043.6:c.1598A>G
ENST00000615287.4:c.1361A>G	ENSP00000483388.1:p.Gln454Arg
ENST00000627000.1:c.*1263A>G	ENSP00000486914.1:n.*1263A>G
ENST00000630240.1:n.1295A>G
NM_000744.6:c.1574A>G	NP_000735.1:p.Gln525Arg
NM_001256573.1:c.1046A>G	NP_001243502.1:p.Gln349Arg
NR_046317.1:n.1830A>G
XM_011528524.1:c.1361A>G	XP_011526826.1:p.Gln454Arg
XM_017027625.2:c.1046A>G	XP_016883114.1:p.Gln349Arg
XM_024451822.1:c.1046A>G	XP_024307590.1:p.Gln349Arg
NM_001256573.2:c.1046A>G	NP_001243502.1:p.Gln349Arg
NR_046317.2:n.1783A>G
NM_000744.7:c.1574A>G MANE Select	NP_000735.1:p.Gln525Arg