Canonical Allele Identifier: CA10674938
Gene: AK4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.65230247G>A
GRCh37 chr1:g.65695930G>A
gnomAD v2:
1:65695930 G / A
gnomAD v3:
1:65230247 G / A
gnomAD v4:
chr1-65230247-G-A
Joint Max Group AF 0.88178679 (AFR)
Genomes Max Group AF 0.88178213 (AFR)
Exomes Max Group AF 0.19701419 (NFE)
dbSNP:
1336472
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65230247G>A , CM000663.2:g.65230247G>A GRCh38
NC_000001.10:g.65695930G>A , CM000663.1:g.65695930G>A GRCh37
NC_000001.9:g.65468518G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000327299.8:c.*4070G>A MANE Select ENSP00000322175.7:n.*4070G>A
ENST00000327299.7:c.*4070G>A ENSP00000322175.7:n.*4070G>A
ENST00000395334.6:c.*4070G>A ENSP00000378743.2:n.*4070G>A
ENST00000545314.5:c.*4070G>A ENSP00000445912.1:n.*4070G>A
NM_001005353.2:c.*4070G>A NP_001005353.1:n.*4070G>A
NM_013410.3:c.*4070G>A NP_037542.1:n.*4070G>A
NM_203464.2:c.*4070G>A NP_982289.1:n.*4070G>A
NM_001330616.1:c.*4070G>A NP_001317545.1:n.*4070G>A
XM_017000613.1:c.*4070G>A XP_016856102.1:n.*4070G>A
NM_013410.4:c.*4070G>A MANE Select NP_037542.1:n.*4070G>A
NM_001330616.2:c.*4070G>A NP_001317545.1:n.*4070G>A
NM_001005353.3:c.*4070G>A NP_001005353.1:n.*4070G>A
NM_203464.3:c.*4070G>A NP_982289.1:n.*4070G>A
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