Canonical Allele Identifier: CA409637432

Gene: CHRNA4

Linked Data

• dbSNP Id: rs748237979
• gnomAD v2: 20-61982129-C-A
• gnomAD v4: 20-63350777-C-A
• MyVariant Identifiers: chr20:g.61982129C>A (hg19) ; chr20:g.63350777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350777C>A , CM000682.2:g.63350777C>A	GRCh38
NC_000020.10:g.61982129C>A , CM000682.1:g.61982129C>A	GRCh37
NC_000020.9:g.61452573C>A	NCBI36
NG_011931.1:g.15567G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.634G>T MANE Select	ENSP00000359285.4:p.Val212Leu
ENST00000370263.8:c.634G>T	ENSP00000359285.4:p.Val212Leu
ENST00000463705.5:n.1282G>T
ENST00000467563.3:n.704G>T
ENST00000498043.6:c.658G>T
ENST00000615287.4:c.421G>T	ENSP00000483388.1:p.Val141Leu
ENST00000627000.1:c.*323G>T	ENSP00000486914.1:n.*323G>T
ENST00000630240.1:n.355G>T
NM_000744.6:c.634G>T	NP_000735.1:p.Val212Leu
NM_001256573.1:c.106G>T	NP_001243502.1:p.Val36Leu
NR_046317.1:n.890G>T
XM_011528524.1:c.421G>T	XP_011526826.1:p.Val141Leu
XM_017027625.2:c.106G>T	XP_016883114.1:p.Val36Leu
XM_024451822.1:c.106G>T	XP_024307590.1:p.Val36Leu
NM_001256573.2:c.106G>T	NP_001243502.1:p.Val36Leu
NR_046317.2:n.843G>T
NM_000744.7:c.634G>T MANE Select	NP_000735.1:p.Val212Leu