Canonical Allele Identifier: CA6280799
Gene: ANKK1 HGNC NCBI
COSMIC:
COSM3720792 (not active)
MyVariant.info:
GRCh38 chr11:g.113397337G>A
GRCh37 chr11:g.113268059G>A
Revel Score:
ENST00000303941 (MANE Select) 0.061
gnomAD v2:
11:113268059 G / A
gnomAD v3:
11:113397337 G / A
gnomAD v4:
chr11-113397337-G-A
Joint Max Group AF 0.50694963 (NFE)
Genomes Max Group AF 0.50011812 (NFE)
Exomes Max Group AF 0.50712655 (NFE)
ClinVar RCV:
RCV003982477
ClinVar Variation:
3060965
dbSNP:
11604671
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113397337G>A , CM000673.2:g.113397337G>A GRCh38
NC_000011.9:g.113268059G>A , CM000673.1:g.113268059G>A GRCh37
NC_000011.8:g.112773269G>A NCBI36
NG_012976.1:g.14547G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303941.4:c.952G>A MANE Select ENSP00000306678.3:p.Gly318Arg
ENST00000303941.3:c.952G>A ENSP00000306678.3:p.Gly318Arg
NM_178510.1:c.952G>A NP_848605.1:p.Gly318Arg
XM_011542736.1:c.982G>A XP_011541038.1:p.Gly328Arg
XM_011542737.1:c.952G>A XP_011541039.1:p.Gly318Arg
XM_011542738.1:c.760G>A XP_011541040.1:p.Gly254Arg
XM_011542736.2:c.982G>A XP_011541038.1:p.Gly328Arg
XM_011542737.2:c.952G>A XP_011541039.1:p.Gly318Arg
XM_011542738.2:c.760G>A XP_011541040.1:p.Gly254Arg
XM_017017475.1:c.982G>A XP_016872964.1:p.Gly328Arg
NM_178510.2:c.952G>A MANE Select NP_848605.1:p.Gly318Arg
Search 100 bp 5'
Search 100 bp 3'