Canonical Allele Identifier: CA9957424

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1169560
• ClinVar RCV Id: RCV001520999
• dbSNP Id: rs2236196
• ExAC: 20:61977556 G / A
• gnomAD v2: 20-61977556-G-A
• gnomAD v3: 20-63346204-G-A
• gnomAD v4: 20-63346204-G-A
• MyVariant Identifiers: chr20:g.61977556G>A (hg19) ; chr20:g.63346204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63346204G>A , CM000682.2:g.63346204G>A	GRCh38
NC_000020.10:g.61977556G>A , CM000682.1:g.61977556G>A	GRCh37
NC_000020.9:g.61448000G>A	NCBI36
NG_011931.1:g.20140C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.*534C>T MANE Select	ENSP00000359285.4:n.*534C>T
ENST00000370263.8:c.*534C>T	ENSP00000359285.4:n.*534C>T
ENST00000463705.5:n.3066C>T
ENST00000615287.4:c.*534C>T	ENSP00000483388.1:n.*534C>T
ENST00000631289.1:n.732C>T
NM_000744.6:c.*534C>T	NP_000735.1:n.*534C>T
NM_001256573.1:c.*534C>T	NP_001243502.1:n.*534C>T
NR_046317.1:n.2674C>T
XM_011528524.1:c.*534C>T	XP_011526826.1:n.*534C>T
XM_017027625.2:c.*534C>T	XP_016883114.1:n.*534C>T
XM_024451822.1:c.*534C>T	XP_024307590.1:n.*534C>T
NM_001256573.2:c.*534C>T	NP_001243502.1:n.*534C>T
NR_046317.2:n.2627C>T
NM_000744.7:c.*534C>T MANE Select	NP_000735.1:n.*534C>T