Canonical Allele Identifier: CA409632569

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1632573
• ClinVar RCV Id: RCV002119118
• dbSNP Id: rs2123469901
• COSMIC: COSM5950506
• MyVariant Identifiers: chr20:g.61981127C>A (hg19) ; chr20:g.63349775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349775C>A , CM000682.2:g.63349775C>A	GRCh38
NC_000020.10:g.61981127C>A , CM000682.1:g.61981127C>A	GRCh37
NC_000020.9:g.61451571C>A	NCBI36
NG_011931.1:g.16569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1636G>T MANE Select	ENSP00000359285.4:p.Val546Phe
ENST00000370263.8:c.1636G>T	ENSP00000359285.4:p.Val546Phe
ENST00000463705.5:n.2284G>T
ENST00000467563.3:n.1706G>T
ENST00000498043.6:c.1660G>T
ENST00000615287.4:c.1423G>T	ENSP00000483388.1:p.Val475Phe
ENST00000627000.1:c.*1325G>T	ENSP00000486914.1:n.*1325G>T
ENST00000630240.1:n.1357G>T
NM_000744.6:c.1636G>T	NP_000735.1:p.Val546Phe
NM_001256573.1:c.1108G>T	NP_001243502.1:p.Val370Phe
NR_046317.1:n.1892G>T
XM_011528524.1:c.1423G>T	XP_011526826.1:p.Val475Phe
XM_017027625.2:c.1108G>T	XP_016883114.1:p.Val370Phe
XM_024451822.1:c.1108G>T	XP_024307590.1:p.Val370Phe
NM_001256573.2:c.1108G>T	NP_001243502.1:p.Val370Phe
NR_046317.2:n.1845G>T
NM_000744.7:c.1636G>T MANE Select	NP_000735.1:p.Val546Phe