Canonical Allele Identifier: CA313551

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 205017
• ClinVar RCV Id: RCV000186929 ; RCV001034146 ; RCV003326368 ; RCV003243008
• dbSNP Id: rs200795334
• ExAC: 20:61981232 C / A
• gnomAD v2: 20-61981232-C-A
• gnomAD v3: 20-63349880-C-A
• gnomAD v4: 20-63349880-C-A
• MyVariant Identifiers: chr20:g.61981232C>A (hg19) ; chr20:g.63349880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349880C>A , CM000682.2:g.63349880C>A	GRCh38
NC_000020.10:g.61981232C>A , CM000682.1:g.61981232C>A	GRCh37
NC_000020.9:g.61451676C>A	NCBI36
NG_011931.1:g.16464G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1531G>T MANE Select	ENSP00000359285.4:p.Ala511Ser
ENST00000370263.8:c.1531G>T	ENSP00000359285.4:p.Ala511Ser
ENST00000463705.5:n.2179G>T
ENST00000467563.3:n.1601G>T
ENST00000498043.6:c.1555G>T
ENST00000615287.4:c.1318G>T	ENSP00000483388.1:p.Ala440Ser
ENST00000627000.1:c.*1220G>T	ENSP00000486914.1:n.*1220G>T
ENST00000630240.1:n.1252G>T
NM_000744.6:c.1531G>T	NP_000735.1:p.Ala511Ser
NM_001256573.1:c.1003G>T	NP_001243502.1:p.Ala335Ser
NR_046317.1:n.1787G>T
XM_011528524.1:c.1318G>T	XP_011526826.1:p.Ala440Ser
XM_017027625.2:c.1003G>T	XP_016883114.1:p.Ala335Ser
XM_024451822.1:c.1003G>T	XP_024307590.1:p.Ala335Ser
NM_001256573.2:c.1003G>T	NP_001243502.1:p.Ala335Ser
NR_046317.2:n.1740G>T
NM_000744.7:c.1531G>T MANE Select	NP_000735.1:p.Ala511Ser