Canonical Allele Identifier: CA6280949
Gene: ANKK1 HGNC NCBI
COSMIC:
COSM1741834 (not active)
MyVariant.info:
GRCh38 chr11:g.113399438A>G
GRCh37 chr11:g.113270160A>G
Revel Score:
ENST00000303941 (MANE Select) 0.088
gnomAD v2:
11:113270160 A / G
gnomAD v3:
11:113399438 A / G
gnomAD v4:
chr11-113399438-A-G
Joint Max Group AF 0.50696089 (NFE)
Genomes Max Group AF 0.50112824 (NFE)
Exomes Max Group AF 0.50707739 (NFE)
ClinVar RCV:
RCV003984654
ClinVar Variation:
3060675
dbSNP:
2734849
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113399438A>G , CM000673.2:g.113399438A>G GRCh38
NC_000011.9:g.113270160A>G , CM000673.1:g.113270160A>G GRCh37
NC_000011.8:g.112775370A>G NCBI36
NG_012976.1:g.16648A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303941.4:c.1469A>G MANE Select ENSP00000306678.3:p.His490Arg
ENST00000303941.3:c.1469A>G ENSP00000306678.3:p.His490Arg
NM_178510.1:c.1469A>G NP_848605.1:p.His490Arg
XM_011542736.1:c.1502A>G XP_011541038.1:p.His501Arg
XM_011542737.1:c.1472A>G XP_011541039.1:p.His491Arg
XM_011542738.1:c.1280A>G XP_011541040.1:p.His427Arg
XM_011542736.2:c.1502A>G XP_011541038.1:p.His501Arg
XM_011542737.2:c.1472A>G XP_011541039.1:p.His491Arg
XM_011542738.2:c.1280A>G XP_011541040.1:p.His427Arg
XM_017017475.1:c.1499A>G XP_016872964.1:p.His500Arg
NM_178510.2:c.1469A>G MANE Select NP_848605.1:p.His490Arg
Search 100 bp 5'
Search 100 bp 3'