Canonical Allele Identifier: CA366981839
Gene: KLHL7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23167919T>C , CM000669.2:g.23167919T>C GRCh38
NC_000007.13:g.23207538T>C , CM000669.1:g.23207538T>C GRCh37
NC_000007.12:g.23174063T>C NCBI36
NG_016983.1:g.67186T>C
NG_016983.2:g.67186T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1261T>C MANE Select ENSP00000343273.4:p.Cys421Arg
ENST00000339077.9:c.1261T>C ENSP00000343273.4:p.Cys421Arg
ENST00000409689.5:c.1117T>C ENSP00000386263.1:p.Cys373Arg
ENST00000469576.1:n.148T>C
ENST00000521082.5:c.*1269T>C ENSP00000430351.1:n.*1269T>C
NM_001031710.2:c.1261T>C NP_001026880.2:p.Cys421Arg
NM_018846.4:c.1117T>C NP_061334.4:p.Cys373Arg
NR_033328.1:n.1685T>C
XM_006715753.1:c.1300T>C XP_006715816.1:p.Cys434Arg
XM_006715754.1:c.1234T>C XP_006715817.1:p.Cys412Arg
XM_006715755.1:c.1234T>C XP_006715818.1:p.Cys412Arg
XM_006715756.1:c.1156T>C XP_006715819.1:p.Cys386Arg
XM_006715753.3:c.1300T>C XP_006715816.1:p.Cys434Arg
XM_006715754.3:c.1234T>C XP_006715817.1:p.Cys412Arg
XM_006715755.3:c.1234T>C XP_006715818.1:p.Cys412Arg
XM_006715756.3:c.1156T>C XP_006715819.1:p.Cys386Arg
XM_017012439.2:c.1195T>C XP_016867928.1:p.Cys399Arg
NM_001031710.3:c.1261T>C MANE Select NP_001026880.2:p.Cys421Arg
NM_018846.5:c.1117T>C NP_061334.4:p.Cys373Arg
NR_033328.2:n.1634T>C