Canonical Allele Identifier: CA150434

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 98327
• ClinVar RCV Id: RCV000084617
• dbSNP Id: rs121912246
• gnomAD v3: 20-63350907-G-A
• gnomAD v4: 20-63350907-G-A
• MyVariant Identifiers: chr20:g.61982259G>A (hg19) ; chr20:g.63350907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350907G>A , CM000682.2:g.63350907G>A	GRCh38
NC_000020.10:g.61982259G>A , CM000682.1:g.61982259G>A	GRCh37
NC_000020.9:g.61452703G>A	NCBI36
NG_011931.1:g.15437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.504C>T MANE Select	ENSP00000359285.4:p.Phe168=
ENST00000370263.8:c.504C>T	ENSP00000359285.4:p.Phe168=
ENST00000463705.5:n.1152C>T
ENST00000467563.3:n.574C>T
ENST00000498043.6:c.528C>T
ENST00000615287.4:c.291C>T	ENSP00000483388.1:p.Phe97=
ENST00000627000.1:c.*193C>T	ENSP00000486914.1:n.*193C>T
ENST00000630240.1:n.225C>T
NM_000744.6:c.504C>T	NP_000735.1:p.Phe168=
NM_001256573.1:c.-25C>T	NP_001243502.1:n.-25C>T
NR_046317.1:n.760C>T
XM_011528524.1:c.291C>T	XP_011526826.1:p.Phe97=
XM_017027625.2:c.-25C>T	XP_016883114.1:n.-25C>T
XM_024451822.1:c.-25C>T	XP_024307590.1:n.-25C>T
NM_001256573.2:c.-25C>T	NP_001243502.1:n.-25C>T
NR_046317.2:n.713C>T
NM_000744.7:c.504C>T MANE Select	NP_000735.1:p.Phe168=