Canonical Allele Identifier: CA511338819

Gene: CHRNA4

Linked Data

• dbSNP Id: rs1249654154
• gnomAD v2: 20-61981808-G-A
• gnomAD v4: 20-63350456-G-A
• MyVariant Identifiers: chr20:g.61981808G>A (hg19) ; chr20:g.63350456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350456G>A , CM000682.2:g.63350456G>A	GRCh38
NC_000020.10:g.61981808G>A , CM000682.1:g.61981808G>A	GRCh37
NC_000020.9:g.61452252G>A	NCBI36
NG_011931.1:g.15888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.955C>T MANE Select	ENSP00000359285.4:p.Leu319=
ENST00000370263.8:c.955C>T	ENSP00000359285.4:p.Leu319=
ENST00000463705.5:n.1603C>T
ENST00000467563.3:n.1025C>T
ENST00000498043.6:c.979C>T
ENST00000615287.4:c.742C>T	ENSP00000483388.1:p.Leu248=
ENST00000627000.1:c.*644C>T	ENSP00000486914.1:n.*644C>T
ENST00000630240.1:n.676C>T
NM_000744.6:c.955C>T	NP_000735.1:p.Leu319=
NM_001256573.1:c.427C>T	NP_001243502.1:p.Leu143=
NR_046317.1:n.1211C>T
XM_011528524.1:c.742C>T	XP_011526826.1:p.Leu248=
XM_017027625.2:c.427C>T	XP_016883114.1:p.Leu143=
XM_024451822.1:c.427C>T	XP_024307590.1:p.Leu143=
NM_001256573.2:c.427C>T	NP_001243502.1:p.Leu143=
NR_046317.2:n.1164C>T
NM_000744.7:c.955C>T MANE Select	NP_000735.1:p.Leu319=