Canonical Allele Identifier: CA2168814

Gene: CHRNG

Linked Data

• ClinVar Variation Id: 335006
• ClinVar RCV Id: RCV001094615 ; RCV003765951
• dbSNP Id: rs375760045
• ExAC: 2:233407972 C / T
• gnomAD v2: 2-233407972-C-T
• gnomAD v3: 2-232543262-C-T
• gnomAD v4: 2-232543262-C-T
• MyVariant Identifiers: chr2:g.233407972C>T (hg19) ; chr2:g.233407972_233407973delinsTG (hg19) ; chr2:g.232543262C>T (hg38) ; chr2:g.232543262_232543263delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232543262C>T , CM000664.2:g.232543262C>T	GRCh38
NC_000002.11:g.233407972C>T , CM000664.1:g.233407972C>T	GRCh37
NC_000002.10:g.233116216C>T	NCBI36
NG_012954.1:g.8536C>T
NG_012954.2:g.8571C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651502.1:c.806-13C>T MANE Select	ENSP00000498757.1:n.806-13C>T
ENST00000389492.3:c.650-13C>T	ENSP00000374143.3:n.650-13C>T
ENST00000389494.7:c.806-13C>T	ENSP00000374145.3:n.806-13C>T
NM_005199.4:c.806-13C>T	NP_005190.4:n.806-13C>T
NM_005199.5:c.806-13C>T MANE Select	NP_005190.4:n.806-13C>T