Canonical Allele Identifier: CA431810409
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs1574643991
MyVariant Identifiers: chr2:g.233406162T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541452T>C , CM000664.2:g.232541452T>C GRCh38
NC_000002.11:g.233406162T>C , CM000664.1:g.233406162T>C GRCh37
NC_000002.10:g.233114406T>C NCBI36
NG_012954.1:g.6726T>C
NG_012954.2:g.6761T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.429T>C MANE Select ENSP00000498757.1:p.Pro143=
ENST00000389492.3:c.350+741T>C ENSP00000374143.3:n.350+741T>C
ENST00000389494.7:c.429T>C ENSP00000374145.3:p.Pro143=
ENST00000485094.1:n.450T>C
NM_005199.4:c.429T>C NP_005190.4:p.Pro143=
NM_005199.5:c.429T>C MANE Select NP_005190.4:p.Pro143=