Canonical Allele Identifier: CA150418

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 98319
• ClinVar RCV Id: RCV000084609 ; RCV000809113 ; RCV002399475
• dbSNP Id: rs121912281
• ExAC: 20:61981138 G / A
• gnomAD v2: 20-61981138-G-A
• gnomAD v3: 20-63349786-G-A
• gnomAD v4: 20-63349786-G-A
• MyVariant Identifiers: chr20:g.61981138G>A (hg19) ; chr20:g.63349786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349786G>A , CM000682.2:g.63349786G>A	GRCh38
NC_000020.10:g.61981138G>A , CM000682.1:g.61981138G>A	GRCh37
NC_000020.9:g.61451582G>A	NCBI36
NG_011931.1:g.16558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1625C>T MANE Select	ENSP00000359285.4:p.Pro542Leu
ENST00000370263.8:c.1625C>T	ENSP00000359285.4:p.Pro542Leu
ENST00000463705.5:n.2273C>T
ENST00000467563.3:n.1695C>T
ENST00000498043.6:c.1649C>T
ENST00000615287.4:c.1412C>T	ENSP00000483388.1:p.Pro471Leu
ENST00000627000.1:c.*1314C>T	ENSP00000486914.1:n.*1314C>T
ENST00000630240.1:n.1346C>T
NM_000744.6:c.1625C>T	NP_000735.1:p.Pro542Leu
NM_001256573.1:c.1097C>T	NP_001243502.1:p.Pro366Leu
NR_046317.1:n.1881C>T
XM_011528524.1:c.1412C>T	XP_011526826.1:p.Pro471Leu
XM_017027625.2:c.1097C>T	XP_016883114.1:p.Pro366Leu
XM_024451822.1:c.1097C>T	XP_024307590.1:p.Pro366Leu
NM_001256573.2:c.1097C>T	NP_001243502.1:p.Pro366Leu
NR_046317.2:n.1834C>T
NM_000744.7:c.1625C>T MANE Select	NP_000735.1:p.Pro542Leu