Canonical Allele Identifier: CA317435441

Gene: CHRNA4

Linked Data

• dbSNP Id: rs928557634
• gnomAD v4: 20-63350381-C-A
• MyVariant Identifiers: chr20:g.61981733C>A (hg19) ; chr20:g.63350381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350381C>A , CM000682.2:g.63350381C>A	GRCh38
NC_000020.10:g.61981733C>A , CM000682.1:g.61981733C>A	GRCh37
NC_000020.9:g.61452177C>A	NCBI36
NG_011931.1:g.15963G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1030G>T MANE Select	ENSP00000359285.4:p.Val344Leu
ENST00000370263.8:c.1030G>T	ENSP00000359285.4:p.Val344Leu
ENST00000463705.5:n.1678G>T
ENST00000467563.3:n.1100G>T
ENST00000498043.6:c.1054G>T
ENST00000615287.4:c.817G>T	ENSP00000483388.1:p.Val273Leu
ENST00000627000.1:c.*719G>T	ENSP00000486914.1:n.*719G>T
ENST00000630240.1:n.751G>T
NM_000744.6:c.1030G>T	NP_000735.1:p.Val344Leu
NM_001256573.1:c.502G>T	NP_001243502.1:p.Val168Leu
NR_046317.1:n.1286G>T
XM_011528524.1:c.817G>T	XP_011526826.1:p.Val273Leu
XM_017027625.2:c.502G>T	XP_016883114.1:p.Val168Leu
XM_024451822.1:c.502G>T	XP_024307590.1:p.Val168Leu
NM_001256573.2:c.502G>T	NP_001243502.1:p.Val168Leu
NR_046317.2:n.1239G>T
NM_000744.7:c.1030G>T MANE Select	NP_000735.1:p.Val344Leu