Canonical Allele Identifier: CA2168680
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs766623295
ExAC: 2:233406227 C / T
gnomAD v2: 2-233406227-C-T
gnomAD v3: 2-232541517-C-T
gnomAD v4: 2-232541517-C-T
MyVariant Identifiers: chr2:g.233406227C>T (hg19) chr2:g.232541517C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541517C>T , CM000664.2:g.232541517C>T GRCh38
NC_000002.11:g.233406227C>T , CM000664.1:g.233406227C>T GRCh37
NC_000002.10:g.233114471C>T NCBI36
NG_012954.1:g.6791C>T
NG_012954.2:g.6826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.494C>T MANE Select ENSP00000498757.1:p.Ser165Phe
ENST00000389492.3:c.350+806C>T ENSP00000374143.3:n.350+806C>T
ENST00000389494.7:c.494C>T ENSP00000374145.3:p.Ser165Phe
ENST00000485094.1:n.515C>T
NM_005199.4:c.494C>T NP_005190.4:p.Ser165Phe
NM_005199.5:c.494C>T MANE Select NP_005190.4:p.Ser165Phe
Search 100 bp 5'
Search 100 bp 3'