Canonical Allele Identifier: CA409632865

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2440025
• ClinVar RCV Id: RCV003144925
• dbSNP Id: rs1327751983
• gnomAD v2: 20-61981186-G-A
• gnomAD v4: 20-63349834-G-A
• MyVariant Identifiers: chr20:g.61981186G>A (hg19) ; chr20:g.63349834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349834G>A , CM000682.2:g.63349834G>A	GRCh38
NC_000020.10:g.61981186G>A , CM000682.1:g.61981186G>A	GRCh37
NC_000020.9:g.61451630G>A	NCBI36
NG_011931.1:g.16510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1577C>T MANE Select	ENSP00000359285.4:p.Pro526Leu
ENST00000370263.8:c.1577C>T	ENSP00000359285.4:p.Pro526Leu
ENST00000463705.5:n.2225C>T
ENST00000467563.3:n.1647C>T
ENST00000498043.6:c.1601C>T
ENST00000615287.4:c.1364C>T	ENSP00000483388.1:p.Pro455Leu
ENST00000627000.1:c.*1266C>T	ENSP00000486914.1:n.*1266C>T
ENST00000630240.1:n.1298C>T
NM_000744.6:c.1577C>T	NP_000735.1:p.Pro526Leu
NM_001256573.1:c.1049C>T	NP_001243502.1:p.Pro350Leu
NR_046317.1:n.1833C>T
XM_011528524.1:c.1364C>T	XP_011526826.1:p.Pro455Leu
XM_017027625.2:c.1049C>T	XP_016883114.1:p.Pro350Leu
XM_024451822.1:c.1049C>T	XP_024307590.1:p.Pro350Leu
NM_001256573.2:c.1049C>T	NP_001243502.1:p.Pro350Leu
NR_046317.2:n.1786C>T
NM_000744.7:c.1577C>T MANE Select	NP_000735.1:p.Pro526Leu