Canonical Allele Identifier: CA317435892

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 859195
• ClinVar RCV Id: RCV001065253
• dbSNP Id: rs759579810
• gnomAD v4: 20-63350663-G-A
• MyVariant Identifiers: chr20:g.61982015G>A (hg19) ; chr20:g.63350663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350663G>A , CM000682.2:g.63350663G>A	GRCh38
NC_000020.10:g.61982015G>A , CM000682.1:g.61982015G>A	GRCh37
NC_000020.9:g.61452459G>A	NCBI36
NG_011931.1:g.15681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.748C>T MANE Select	ENSP00000359285.4:p.Leu250Phe
ENST00000370263.8:c.748C>T	ENSP00000359285.4:p.Leu250Phe
ENST00000463705.5:n.1396C>T
ENST00000467563.3:n.818C>T
ENST00000498043.6:c.772C>T
ENST00000615287.4:c.535C>T	ENSP00000483388.1:p.Leu179Phe
ENST00000627000.1:c.*437C>T	ENSP00000486914.1:n.*437C>T
ENST00000630240.1:n.469C>T
NM_000744.6:c.748C>T	NP_000735.1:p.Leu250Phe
NM_001256573.1:c.220C>T	NP_001243502.1:p.Leu74Phe
NR_046317.1:n.1004C>T
XM_011528524.1:c.535C>T	XP_011526826.1:p.Leu179Phe
XM_017027625.2:c.220C>T	XP_016883114.1:p.Leu74Phe
XM_024451822.1:c.220C>T	XP_024307590.1:p.Leu74Phe
NM_001256573.2:c.220C>T	NP_001243502.1:p.Leu74Phe
NR_046317.2:n.957C>T
NM_000744.7:c.748C>T MANE Select	NP_000735.1:p.Leu250Phe