Canonical Allele Identifier: CA2168673
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs780067480
ExAC: 2:233406202 T / C
gnomAD v2: 2-233406202-T-C
gnomAD v4: 2-232541492-T-C
MyVariant Identifiers: chr2:g.233406202T>C (hg19) chr2:g.232541492T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541492T>C , CM000664.2:g.232541492T>C GRCh38
NC_000002.11:g.233406202T>C , CM000664.1:g.233406202T>C GRCh37
NC_000002.10:g.233114446T>C NCBI36
NG_012954.1:g.6766T>C
NG_012954.2:g.6801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.469T>C MANE Select ENSP00000498757.1:p.Phe157Leu
ENST00000389492.3:c.350+781T>C ENSP00000374143.3:n.350+781T>C
ENST00000389494.7:c.469T>C ENSP00000374145.3:p.Phe157Leu
ENST00000485094.1:n.490T>C
NM_005199.4:c.469T>C NP_005190.4:p.Phe157Leu
NM_005199.5:c.469T>C MANE Select NP_005190.4:p.Phe157Leu
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