Canonical Allele Identifier: CA409634457

Gene: CHRNA4

Linked Data

• gnomAD v4: 20-63350288-T-G
• MyVariant Identifiers: chr20:g.61981640T>G (hg19) ; chr20:g.63350288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350288T>G , CM000682.2:g.63350288T>G	GRCh38
NC_000020.10:g.61981640T>G , CM000682.1:g.61981640T>G	GRCh37
NC_000020.9:g.61452084T>G	NCBI36
NG_011931.1:g.16056A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1123A>C MANE Select	ENSP00000359285.4:p.Met375Leu
ENST00000370263.8:c.1123A>C	ENSP00000359285.4:p.Met375Leu
ENST00000463705.5:n.1771A>C
ENST00000467563.3:n.1193A>C
ENST00000498043.6:c.1147A>C
ENST00000615287.4:c.910A>C	ENSP00000483388.1:p.Met304Leu
ENST00000627000.1:c.*812A>C	ENSP00000486914.1:n.*812A>C
ENST00000630240.1:n.844A>C
NM_000744.6:c.1123A>C	NP_000735.1:p.Met375Leu
NM_001256573.1:c.595A>C	NP_001243502.1:p.Met199Leu
NR_046317.1:n.1379A>C
XM_011528524.1:c.910A>C	XP_011526826.1:p.Met304Leu
XM_017027625.2:c.595A>C	XP_016883114.1:p.Met199Leu
XM_024451822.1:c.595A>C	XP_024307590.1:p.Met199Leu
NM_001256573.2:c.595A>C	NP_001243502.1:p.Met199Leu
NR_046317.2:n.1332A>C
NM_000744.7:c.1123A>C MANE Select	NP_000735.1:p.Met375Leu