Canonical Allele Identifier: CA9762913
Gene: ANKEF1 HGNC NCBI
SNAP25-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.10049632A>G
GRCh37 chr20:g.10030280A>G
Revel Score:
ENST00000378392 (MANE Select) 0.035
ENST00000378380 0.035
gnomAD v2:
20:10030280 A / G
gnomAD v3:
20:10049632 A / G
gnomAD v4:
chr20-10049632-A-G
Joint Max Group AF 0.0006032 (NFE)
Genomes Max Group AF 0.00076841 (NFE)
Exomes Max Group AF 0.00058349 (NFE)
ClinVar RCV:
RCV004177829
ClinVar Variation:
2336222
dbSNP:
139125291
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10049632A>G , CM000682.2:g.10049632A>G GRCh38
NC_000020.10:g.10030280A>G , CM000682.1:g.10030280A>G GRCh37
NC_000020.9:g.9978280A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378392.6:c.1063A>G (ANKEF1) MANE Select ENSP00000367644.1:p.Ser355Gly
ENST00000378380.4:c.1063A>G (ANKEF1) ENSP00000367631.3:p.Ser355Gly
ENST00000378392.5:c.1063A>G (ANKEF1) ENSP00000367644.1:p.Ser355Gly
ENST00000488991.1:n.1370A>G (ANKEF1)
NM_001303472.1:c.496A>G (ANKEF1) NP_001290401.1:p.Ser166Gly
NM_022096.5:c.1063A>G (ANKEF1) NP_071379.3:p.Ser355Gly
NM_198798.2:c.1063A>G (ANKEF1) NP_942093.1:p.Ser355Gly
NR_040710.1:n.500-22984T>C (SNAP25-AS1)
XM_005260792.2:c.496A>G (ANKEF1) XP_005260849.1:p.Ser166Gly
NM_022096.6:c.1063A>G (ANKEF1) MANE Select NP_071379.3:p.Ser355Gly
NM_001303472.2:c.496A>G (ANKEF1) NP_001290401.1:p.Ser166Gly
NM_198798.3:c.1063A>G (ANKEF1) NP_942093.1:p.Ser355Gly
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