Canonical Allele Identifier: CA2168628

Gene: CHRNG

Linked Data

• dbSNP Id: rs749149480
• ExAC: 2:233406035 C / T
• gnomAD v2: 2-233406035-C-T
• gnomAD v3: 2-232541325-C-T
• gnomAD v4: 2-232541325-C-T
• COSMIC: COSN4893413
• MyVariant Identifiers: chr2:g.233406035C>T (hg19) ; chr2:g.232541325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232541325C>T , CM000664.2:g.232541325C>T	GRCh38
NC_000002.11:g.233406035C>T , CM000664.1:g.233406035C>T	GRCh37
NC_000002.10:g.233114279C>T	NCBI36
NG_012954.1:g.6599C>T
NG_012954.2:g.6634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651502.1:c.351-49C>T MANE Select	ENSP00000498757.1:n.351-49C>T
ENST00000389492.3:c.350+614C>T	ENSP00000374143.3:n.350+614C>T
ENST00000389494.7:c.351-49C>T	ENSP00000374145.3:n.351-49C>T
ENST00000485094.1:n.372-49C>T
NM_005199.4:c.351-49C>T	NP_005190.4:n.351-49C>T
NM_005199.5:c.351-49C>T MANE Select	NP_005190.4:n.351-49C>T