Canonical Allele Identifier: CA4662081
Gene: HR HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.22120760G>A
GRCh37 chr8:g.21978273G>A
Revel Score:
ENST00000381418 (MANE Select) 0.127
ENST00000312841 0.127
ENST00000517699 0.127
gnomAD v2:
8:21978273 G / A
gnomAD v3:
8:22120760 G / A
gnomAD v4:
chr8-22120760-G-A
Joint Max Group AF 0.00306613 (NFE)
Genomes Max Group AF 0.00281508 (NFE)
Exomes Max Group AF 0.00306295 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22120760G>A , CM000670.2:g.22120760G>A GRCh38
NC_000008.10:g.21978273G>A , CM000670.1:g.21978273G>A GRCh37
NC_000008.9:g.22034218G>A NCBI36
NG_008166.1:g.14758C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.2566C>T MANE Select ENSP00000370826.4:p.Arg856Trp
ENST00000680789.1:c.2566C>T ENSP00000505181.1:p.Arg856Trp
ENST00000312841.9:c.2566C>T ENSP00000326765.8:p.Arg856Trp
ENST00000381418.8:c.2566C>T ENSP00000370826.4:p.Arg856Trp
ENST00000517699.2:c.507C>T
NM_005144.4:c.2566C>T NP_005135.2:p.Arg856Trp
NM_018411.4:c.2566C>T NP_060881.2:p.Arg856Trp
XM_005273569.1:c.2569C>T XP_005273626.1:p.Arg857Trp
XM_006716367.1:c.2569C>T XP_006716430.1:p.Arg857Trp
XM_005273569.2:c.2569C>T XP_005273626.1:p.Arg857Trp
XM_006716367.2:c.2569C>T XP_006716430.1:p.Arg857Trp
NM_005144.5:c.2566C>T MANE Select NP_005135.2:p.Arg856Trp
Search 100 bp 5'
Search 100 bp 3'