Canonical Allele Identifier: CA16608009

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 384429
• ClinVar RCV Id: RCV000417573
• dbSNP Id: rs1057521949
• gnomAD v4: 20-63349847-G-A
• MyVariant Identifiers: chr20:g.61981199G>A (hg19) ; chr20:g.63349847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349847G>A , CM000682.2:g.63349847G>A	GRCh38
NC_000020.10:g.61981199G>A , CM000682.1:g.61981199G>A	GRCh37
NC_000020.9:g.61451643G>A	NCBI36
NG_011931.1:g.16497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1564C>T MANE Select	ENSP00000359285.4:p.Pro522Ser
ENST00000370263.8:c.1564C>T	ENSP00000359285.4:p.Pro522Ser
ENST00000463705.5:n.2212C>T
ENST00000467563.3:n.1634C>T
ENST00000498043.6:c.1588C>T
ENST00000615287.4:c.1351C>T	ENSP00000483388.1:p.Pro451Ser
ENST00000627000.1:c.*1253C>T	ENSP00000486914.1:n.*1253C>T
ENST00000630240.1:n.1285C>T
NM_000744.6:c.1564C>T	NP_000735.1:p.Pro522Ser
NM_001256573.1:c.1036C>T	NP_001243502.1:p.Pro346Ser
NR_046317.1:n.1820C>T
XM_011528524.1:c.1351C>T	XP_011526826.1:p.Pro451Ser
XM_017027625.2:c.1036C>T	XP_016883114.1:p.Pro346Ser
XM_024451822.1:c.1036C>T	XP_024307590.1:p.Pro346Ser
NM_001256573.2:c.1036C>T	NP_001243502.1:p.Pro346Ser
NR_046317.2:n.1773C>T
NM_000744.7:c.1564C>T MANE Select	NP_000735.1:p.Pro522Ser