Canonical Allele Identifier: CA317435643

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 543539
• ClinVar RCV Id: RCV000654334
• dbSNP Id: rs1041716120
• gnomAD v2: 20-61981851-T-C
• gnomAD v3: 20-63350499-T-C
• gnomAD v4: 20-63350499-T-C
• MyVariant Identifiers: chr20:g.61981851T>C (hg19) ; chr20:g.63350499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350499T>C , CM000682.2:g.63350499T>C	GRCh38
NC_000020.10:g.61981851T>C , CM000682.1:g.61981851T>C	GRCh37
NC_000020.9:g.61452295T>C	NCBI36
NG_011931.1:g.15845A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.912A>G MANE Select	ENSP00000359285.4:p.Pro304=
ENST00000370263.8:c.912A>G	ENSP00000359285.4:p.Pro304=
ENST00000463705.5:n.1560A>G
ENST00000467563.3:n.982A>G
ENST00000498043.6:c.936A>G
ENST00000615287.4:c.699A>G	ENSP00000483388.1:p.Pro233=
ENST00000627000.1:c.*601A>G	ENSP00000486914.1:n.*601A>G
ENST00000630240.1:n.633A>G
NM_000744.6:c.912A>G	NP_000735.1:p.Pro304=
NM_001256573.1:c.384A>G	NP_001243502.1:p.Pro128=
NR_046317.1:n.1168A>G
XM_011528524.1:c.699A>G	XP_011526826.1:p.Pro233=
XM_017027625.2:c.384A>G	XP_016883114.1:p.Pro128=
XM_024451822.1:c.384A>G	XP_024307590.1:p.Pro128=
NM_001256573.2:c.384A>G	NP_001243502.1:p.Pro128=
NR_046317.2:n.1121A>G
NM_000744.7:c.912A>G MANE Select	NP_000735.1:p.Pro304=