Canonical Allele Identifier: CA9957708

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2919069
• ClinVar RCV Id: RCV003747658
• dbSNP Id: rs746728958
• ExAC: 20:61981872 C / T
• gnomAD v3: 20-63350520-C-T
• gnomAD v4: 20-63350520-C-T
• MyVariant Identifiers: chr20:g.61981872C>T (hg19) ; chr20:g.63350520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350520C>T , CM000682.2:g.63350520C>T	GRCh38
NC_000020.10:g.61981872C>T , CM000682.1:g.61981872C>T	GRCh37
NC_000020.9:g.61452316C>T	NCBI36
NG_011931.1:g.15824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.891G>A MANE Select	ENSP00000359285.4:p.Pro297=
ENST00000370263.8:c.891G>A	ENSP00000359285.4:p.Pro297=
ENST00000463705.5:n.1539G>A
ENST00000467563.3:n.961G>A
ENST00000498043.6:c.915G>A
ENST00000615287.4:c.678G>A	ENSP00000483388.1:p.Pro226=
ENST00000627000.1:c.*580G>A	ENSP00000486914.1:n.*580G>A
ENST00000630240.1:n.612G>A
NM_000744.6:c.891G>A	NP_000735.1:p.Pro297=
NM_001256573.1:c.363G>A	NP_001243502.1:p.Pro121=
NR_046317.1:n.1147G>A
XM_011528524.1:c.678G>A	XP_011526826.1:p.Pro226=
XM_017027625.2:c.363G>A	XP_016883114.1:p.Pro121=
XM_024451822.1:c.363G>A	XP_024307590.1:p.Pro121=
NM_001256573.2:c.363G>A	NP_001243502.1:p.Pro121=
NR_046317.2:n.1100G>A
NM_000744.7:c.891G>A MANE Select	NP_000735.1:p.Pro297=