Canonical Allele Identifier: CA66966337

Gene: CHRNG

Linked Data

• dbSNP Id: rs201260649
• gnomAD v4: 2-232541345-T-C
• MyVariant Identifiers: chr2:g.233406055T>C (hg19) ; chr2:g.232541345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232541345T>C , CM000664.2:g.232541345T>C	GRCh38
NC_000002.11:g.233406055T>C , CM000664.1:g.233406055T>C	GRCh37
NC_000002.10:g.233114299T>C	NCBI36
NG_012954.1:g.6619T>C
NG_012954.2:g.6654T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000651502.1:c.351-29T>C MANE Select	ENSP00000498757.1:n.351-29T>C
ENST00000389492.3:c.350+634T>C	ENSP00000374143.3:n.350+634T>C
ENST00000389494.7:c.351-29T>C	ENSP00000374145.3:n.351-29T>C
ENST00000485094.1:n.372-29T>C
NM_005199.4:c.351-29T>C	NP_005190.4:n.351-29T>C
NM_005199.5:c.351-29T>C MANE Select	NP_005190.4:n.351-29T>C