Canonical Allele Identifier: CA9957477

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 377679
• ClinVar RCV Id: RCV001712185
• dbSNP Id: rs201097839
• ExAC: 20:61978085 C / G
• gnomAD v2: 20-61978085-C-G
• gnomAD v3: 20-63346733-C-G
• gnomAD v4: 20-63346733-C-G
• MyVariant Identifiers: chr20:g.61978085C>G (hg19) ; chr20:g.63346733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63346733C>G , CM000682.2:g.63346733C>G	GRCh38
NC_000020.10:g.61978085C>G , CM000682.1:g.61978085C>G	GRCh37
NC_000020.9:g.61448529C>G	NCBI36
NG_011931.1:g.19611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.*5G>C MANE Select	ENSP00000359285.4:n.*5G>C
ENST00000370263.8:c.*5G>C	ENSP00000359285.4:n.*5G>C
ENST00000463705.5:n.2537G>C
ENST00000467563.3:n.1959G>C
ENST00000498043.6:c.1913G>C
ENST00000615287.4:c.*5G>C	ENSP00000483388.1:n.*5G>C
ENST00000627000.1:c.*1578G>C	ENSP00000486914.1:n.*1578G>C
ENST00000631289.1:n.203G>C
NM_000744.6:c.*5G>C	NP_000735.1:n.*5G>C
NM_001256573.1:c.*5G>C	NP_001243502.1:n.*5G>C
NR_046317.1:n.2145G>C
XM_011528524.1:c.*5G>C	XP_011526826.1:n.*5G>C
XM_017027625.2:c.*5G>C	XP_016883114.1:n.*5G>C
XM_024451822.1:c.*5G>C	XP_024307590.1:n.*5G>C
NM_001256573.2:c.*5G>C	NP_001243502.1:n.*5G>C
NR_046317.2:n.2098G>C
NM_000744.7:c.*5G>C MANE Select	NP_000735.1:n.*5G>C