Canonical Allele Identifier: CA351012060
Gene: CHRNG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232543002T>C , CM000664.2:g.232543002T>C GRCh38
NC_000002.11:g.233407712T>C , CM000664.1:g.233407712T>C GRCh37
NC_000002.10:g.233115956T>C NCBI36
NG_012954.1:g.8276T>C
NG_012954.2:g.8311T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651502.1:c.725T>C MANE Select ENSP00000498757.1:p.Leu242Pro
ENST00000389492.3:c.569T>C ENSP00000374143.3:p.Leu190Pro
ENST00000389494.7:c.725T>C ENSP00000374145.3:p.Leu242Pro
NM_005199.4:c.725T>C NP_005190.4:p.Leu242Pro
NM_005199.5:c.725T>C MANE Select NP_005190.4:p.Leu242Pro