Allele Registry

Canonical Allele Identifier: CA14107346

Gene: CHRNA5 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr15:g.78565644C>G

GRCh37 chr15:g.78857986C>G

Linked Data - Sequence & Population

gnomAD v2:

15:78857986 C / G

gnomAD v3:

15:78565644 C / G

gnomAD v4:

chr15-78565644-C-G

Joint Max Group AF 0.35460719 (MID)

Genomes Max Group AF 0.34695695 (NFE)

Exomes Max Group AF 0.34746418 (MID)

Linked Data - NCBI & NCI

dbSNP:

55781567

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78565644C>G , CM000677.2:g.78565644C>G	GRCh38
NC_000015.9:g.78857986C>G , CM000677.1:g.78857986C>G	GRCh37
NC_000015.8:g.76645041C>G	NCBI36
NG_023328.1:g.5125C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.-76C>G MANE Select	ENSP00000299565.5:n.-76C>G
ENST00000559554.5:c.-76C>G	ENSP00000453519.1:n.-76C>G
NM_000745.3:c.-76C>G	NP_000736.2:n.-76C>G
NM_001307945.1:c.-76C>G	NP_001294874.1:n.-76C>G
XM_005254142.2:c.-76C>G	XP_005254199.1:n.-76C>G
NM_001307945.2:c.-76C>G	NP_001294874.1:n.-76C>G
NM_000745.4:c.-76C>G MANE Select	NP_000736.2:n.-76C>G
NM_001395171.1:c.-76C>G	NP_001382100.1:n.-76C>G
NM_001395172.1:c.-76C>G	NP_001382101.1:n.-76C>G
NM_001395173.1:c.-76C>G	NP_001382102.1:n.-76C>G
NM_001395174.1:c.-76C>G	NP_001382103.1:n.-76C>G
NM_001395175.1:c.-76C>G	NP_001382104.1:n.-76C>G

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