Canonical Allele Identifier: CA9957789

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1110642
• ClinVar RCV Id: RCV001436950 ; RCV002341955
• dbSNP Id: rs141909279
• ExAC: 20:61982247 C / T
• MyVariant Identifiers: chr20:g.61982247C>T (hg19) ; chr20:g.63350895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350895C>T , CM000682.2:g.63350895C>T	GRCh38
NC_000020.10:g.61982247C>T , CM000682.1:g.61982247C>T	GRCh37
NC_000020.9:g.61452691C>T	NCBI36
NG_011931.1:g.15449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.516G>A MANE Select	ENSP00000359285.4:p.Gln172=
ENST00000370263.8:c.516G>A	ENSP00000359285.4:p.Gln172=
ENST00000463705.5:n.1164G>A
ENST00000467563.3:n.586G>A
ENST00000498043.6:c.540G>A
ENST00000615287.4:c.303G>A	ENSP00000483388.1:p.Gln101=
ENST00000627000.1:c.*205G>A	ENSP00000486914.1:n.*205G>A
ENST00000630240.1:n.237G>A
NM_000744.6:c.516G>A	NP_000735.1:p.Gln172=
NM_001256573.1:c.-13G>A	NP_001243502.1:n.-13G>A
NR_046317.1:n.772G>A
XM_011528524.1:c.303G>A	XP_011526826.1:p.Gln101=
XM_017027625.2:c.-13G>A	XP_016883114.1:n.-13G>A
XM_024451822.1:c.-13G>A	XP_024307590.1:n.-13G>A
NM_001256573.2:c.-13G>A	NP_001243502.1:n.-13G>A
NR_046317.2:n.725G>A
NM_000744.7:c.516G>A MANE Select	NP_000735.1:p.Gln172=