Canonical Allele Identifier: CA409638385

Gene: CHRNA4

Linked Data

• dbSNP Id: rs1247664860
• gnomAD v2: 20-61982273-C-T
• gnomAD v4: 20-63350921-C-T
• COSMIC: COSM1413087
• MyVariant Identifiers: chr20:g.61982273C>T (hg19) ; chr20:g.63350921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350921C>T , CM000682.2:g.63350921C>T	GRCh38
NC_000020.10:g.61982273C>T , CM000682.1:g.61982273C>T	GRCh37
NC_000020.9:g.61452717C>T	NCBI36
NG_011931.1:g.15423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.490G>A MANE Select	ENSP00000359285.4:p.Asp164Asn
ENST00000370263.8:c.490G>A	ENSP00000359285.4:p.Asp164Asn
ENST00000463705.5:n.1138G>A
ENST00000467563.3:n.560G>A
ENST00000498043.6:c.514G>A
ENST00000615287.4:c.277G>A	ENSP00000483388.1:p.Asp93Asn
ENST00000627000.1:c.*179G>A	ENSP00000486914.1:n.*179G>A
ENST00000628665.1:n.533G>A
ENST00000630240.1:n.211G>A
NM_000744.6:c.490G>A	NP_000735.1:p.Asp164Asn
NM_001256573.1:c.-39G>A	NP_001243502.1:n.-39G>A
NR_046317.1:n.746G>A
XM_011528524.1:c.277G>A	XP_011526826.1:p.Asp93Asn
XM_017027625.2:c.-39G>A	XP_016883114.1:n.-39G>A
XM_024451822.1:c.-39G>A	XP_024307590.1:n.-39G>A
NM_001256573.2:c.-39G>A	NP_001243502.1:n.-39G>A
NR_046317.2:n.699G>A
NM_000744.7:c.490G>A MANE Select	NP_000735.1:p.Asp164Asn