Canonical Allele Identifier: CA150454

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 98337
• ClinVar RCV Id: RCV000084627 ; RCV000767932 ; RCV003224146
• dbSNP Id: rs121912256
• MyVariant Identifiers: chr20:g.61981964G>A (hg19) ; chr20:g.63350612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350612G>A , CM000682.2:g.63350612G>A	GRCh38
NC_000020.10:g.61981964G>A , CM000682.1:g.61981964G>A	GRCh37
NC_000020.9:g.61452408G>A	NCBI36
NG_011931.1:g.15732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.799C>T MANE Select	ENSP00000359285.4:p.Leu267=
ENST00000370263.8:c.799C>T	ENSP00000359285.4:p.Leu267=
ENST00000463705.5:n.1447C>T
ENST00000467563.3:n.869C>T
ENST00000498043.6:c.823C>T
ENST00000615287.4:c.586C>T	ENSP00000483388.1:p.Leu196=
ENST00000627000.1:c.*488C>T	ENSP00000486914.1:n.*488C>T
ENST00000630240.1:n.520C>T
NM_000744.6:c.799C>T	NP_000735.1:p.Leu267=
NM_001256573.1:c.271C>T	NP_001243502.1:p.Leu91=
NR_046317.1:n.1055C>T
XM_011528524.1:c.586C>T	XP_011526826.1:p.Leu196=
XM_017027625.2:c.271C>T	XP_016883114.1:p.Leu91=
XM_024451822.1:c.271C>T	XP_024307590.1:p.Leu91=
NM_001256573.2:c.271C>T	NP_001243502.1:p.Leu91=
NR_046317.2:n.1008C>T
NM_000744.7:c.799C>T MANE Select	NP_000735.1:p.Leu267=