Canonical Allele Identifier: CA2168656
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs775982805
ExAC: 2:233406145 A / T
gnomAD v2: 2-233406145-A-T
MyVariant Identifiers: chr2:g.233406145A>T (hg19) chr2:g.232541435A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541435A>T , CM000664.2:g.232541435A>T GRCh38
NC_000002.11:g.233406145A>T , CM000664.1:g.233406145A>T GRCh37
NC_000002.10:g.233114389A>T NCBI36
NG_012954.1:g.6709A>T
NG_012954.2:g.6744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.412A>T MANE Select ENSP00000498757.1:p.Ile138Phe
ENST00000389492.3:c.350+724A>T ENSP00000374143.3:n.350+724A>T
ENST00000389494.7:c.412A>T ENSP00000374145.3:p.Ile138Phe
ENST00000485094.1:n.433A>T
NM_005199.4:c.412A>T NP_005190.4:p.Ile138Phe
NM_005199.5:c.412A>T MANE Select NP_005190.4:p.Ile138Phe
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