Canonical Allele Identifier: CA313549

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 205016
• ClinVar RCV Id: RCV000186928 ; RCV001421961 ; RCV003947566
• dbSNP Id: rs149407396
• ExAC: 20:61982142 G / A
• gnomAD v2: 20-61982142-G-A
• gnomAD v3: 20-63350790-G-A
• gnomAD v4: 20-63350790-G-A
• MyVariant Identifiers: chr20:g.61982142G>A (hg19) ; chr20:g.63350790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350790G>A , CM000682.2:g.63350790G>A	GRCh38
NC_000020.10:g.61982142G>A , CM000682.1:g.61982142G>A	GRCh37
NC_000020.9:g.61452586G>A	NCBI36
NG_011931.1:g.15554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.621C>T MANE Select	ENSP00000359285.4:p.Gly207=
ENST00000370263.8:c.621C>T	ENSP00000359285.4:p.Gly207=
ENST00000463705.5:n.1269C>T
ENST00000467563.3:n.691C>T
ENST00000498043.6:c.645C>T
ENST00000615287.4:c.408C>T	ENSP00000483388.1:p.Gly136=
ENST00000627000.1:c.*310C>T	ENSP00000486914.1:n.*310C>T
ENST00000630240.1:n.342C>T
NM_000744.6:c.621C>T	NP_000735.1:p.Gly207=
NM_001256573.1:c.93C>T	NP_001243502.1:p.Gly31=
NR_046317.1:n.877C>T
XM_011528524.1:c.408C>T	XP_011526826.1:p.Gly136=
XM_017027625.2:c.93C>T	XP_016883114.1:p.Gly31=
XM_024451822.1:c.93C>T	XP_024307590.1:p.Gly31=
NM_001256573.2:c.93C>T	NP_001243502.1:p.Gly31=
NR_046317.2:n.830C>T
NM_000744.7:c.621C>T MANE Select	NP_000735.1:p.Gly207=