Canonical Allele Identifier: CA511339027

Gene: CHRNA4

Linked Data

• dbSNP Id: rs1308094771
• gnomAD v2: 20-61982250-G-A
• gnomAD v4: 20-63350898-G-A
• MyVariant Identifiers: chr20:g.61982250G>A (hg19) ; chr20:g.63350898G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350898G>A , CM000682.2:g.63350898G>A	GRCh38
NC_000020.10:g.61982250G>A , CM000682.1:g.61982250G>A	GRCh37
NC_000020.9:g.61452694G>A	NCBI36
NG_011931.1:g.15446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.513C>T MANE Select	ENSP00000359285.4:p.Asp171=
ENST00000370263.8:c.513C>T	ENSP00000359285.4:p.Asp171=
ENST00000463705.5:n.1161C>T
ENST00000467563.3:n.583C>T
ENST00000498043.6:c.537C>T
ENST00000615287.4:c.300C>T	ENSP00000483388.1:p.Asp100=
ENST00000627000.1:c.*202C>T	ENSP00000486914.1:n.*202C>T
ENST00000630240.1:n.234C>T
NM_000744.6:c.513C>T	NP_000735.1:p.Asp171=
NM_001256573.1:c.-16C>T	NP_001243502.1:n.-16C>T
NR_046317.1:n.769C>T
XM_011528524.1:c.300C>T	XP_011526826.1:p.Asp100=
XM_017027625.2:c.-16C>T	XP_016883114.1:n.-16C>T
XM_024451822.1:c.-16C>T	XP_024307590.1:n.-16C>T
NM_001256573.2:c.-16C>T	NP_001243502.1:n.-16C>T
NR_046317.2:n.722C>T
NM_000744.7:c.513C>T MANE Select	NP_000735.1:p.Asp171=