Canonical Allele Identifier: CA511338944

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2876741
• ClinVar RCV Id: RCV003746318
• dbSNP Id: rs1415271198
• gnomAD v2: 20-61981971-G-C
• gnomAD v3: 20-63350619-G-C
• gnomAD v4: 20-63350619-G-C
• MyVariant Identifiers: chr20:g.61981971G>C (hg19) ; chr20:g.63350619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350619G>C , CM000682.2:g.63350619G>C	GRCh38
NC_000020.10:g.61981971G>C , CM000682.1:g.61981971G>C	GRCh37
NC_000020.9:g.61452415G>C	NCBI36
NG_011931.1:g.15725C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.792C>G MANE Select	ENSP00000359285.4:p.Val264=
ENST00000370263.8:c.792C>G	ENSP00000359285.4:p.Val264=
ENST00000463705.5:n.1440C>G
ENST00000467563.3:n.862C>G
ENST00000498043.6:c.816C>G
ENST00000615287.4:c.579C>G	ENSP00000483388.1:p.Val193=
ENST00000627000.1:c.*481C>G	ENSP00000486914.1:n.*481C>G
ENST00000630240.1:n.513C>G
NM_000744.6:c.792C>G	NP_000735.1:p.Val264=
NM_001256573.1:c.264C>G	NP_001243502.1:p.Val88=
NR_046317.1:n.1048C>G
XM_011528524.1:c.579C>G	XP_011526826.1:p.Val193=
XM_017027625.2:c.264C>G	XP_016883114.1:p.Val88=
XM_024451822.1:c.264C>G	XP_024307590.1:p.Val88=
NM_001256573.2:c.264C>G	NP_001243502.1:p.Val88=
NR_046317.2:n.1001C>G
NM_000744.7:c.792C>G MANE Select	NP_000735.1:p.Val264=