Allele Registry

Canonical Allele Identifier: CA14107345

Gene: CHRNA5 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr15:g.78565597T>G

GRCh37 chr15:g.78857939T>G

Linked Data - Sequence & Population

gnomAD v2:

15:78857939 T / G

gnomAD v3:

15:78565597 T / G

gnomAD v4:

chr15-78565597-T-G

Joint Max Group AF 0.34953538 (NFE)

Genomes Max Group AF 0.34643145 (NFE)

Exomes Max Group AF 0.35058403 (NFE)

Linked Data - NCBI & NCI

dbSNP:

55853698

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78565597T>G , CM000677.2:g.78565597T>G	GRCh38
NC_000015.9:g.78857939T>G , CM000677.1:g.78857939T>G	GRCh37
NC_000015.8:g.76644994T>G	NCBI36
NG_023328.1:g.5078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.-123T>G MANE Select	ENSP00000299565.5:n.-123T>G
ENST00000559554.5:c.-123T>G	ENSP00000453519.1:n.-123T>G
NM_000745.3:c.-123T>G	NP_000736.2:n.-123T>G
NM_001307945.1:c.-123T>G	NP_001294874.1:n.-123T>G
XM_005254142.2:c.-123T>G	XP_005254199.1:n.-123T>G
NM_001307945.2:c.-123T>G	NP_001294874.1:n.-123T>G
NM_000745.4:c.-123T>G MANE Select	NP_000736.2:n.-123T>G
NM_001395171.1:c.-123T>G	NP_001382100.1:n.-123T>G
NM_001395172.1:c.-123T>G	NP_001382101.1:n.-123T>G
NM_001395173.1:c.-123T>G	NP_001382102.1:n.-123T>G
NM_001395174.1:c.-123T>G	NP_001382103.1:n.-123T>G
NM_001395175.1:c.-123T>G	NP_001382104.1:n.-123T>G

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