Canonical Allele Identifier: CA409634506

Gene: CHRNA4

Linked Data

• gnomAD v4: 20-63350300-G-A
• MyVariant Identifiers: chr20:g.61981652G>A (hg19) ; chr20:g.63350300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350300G>A , CM000682.2:g.63350300G>A	GRCh38
NC_000020.10:g.61981652G>A , CM000682.1:g.61981652G>A	GRCh37
NC_000020.9:g.61452096G>A	NCBI36
NG_011931.1:g.16044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1111C>T MANE Select	ENSP00000359285.4:p.Leu371Phe
ENST00000370263.8:c.1111C>T	ENSP00000359285.4:p.Leu371Phe
ENST00000463705.5:n.1759C>T
ENST00000467563.3:n.1181C>T
ENST00000498043.6:c.1135C>T
ENST00000615287.4:c.898C>T	ENSP00000483388.1:p.Leu300Phe
ENST00000627000.1:c.*800C>T	ENSP00000486914.1:n.*800C>T
ENST00000630240.1:n.832C>T
NM_000744.6:c.1111C>T	NP_000735.1:p.Leu371Phe
NM_001256573.1:c.583C>T	NP_001243502.1:p.Leu195Phe
NR_046317.1:n.1367C>T
XM_011528524.1:c.898C>T	XP_011526826.1:p.Leu300Phe
XM_017027625.2:c.583C>T	XP_016883114.1:p.Leu195Phe
XM_024451822.1:c.583C>T	XP_024307590.1:p.Leu195Phe
NM_001256573.2:c.583C>T	NP_001243502.1:p.Leu195Phe
NR_046317.2:n.1320C>T
NM_000744.7:c.1111C>T MANE Select	NP_000735.1:p.Leu371Phe