Canonical Allele Identifier: CA10576261
Gene: KLHL7 HGNC NCBI

Linked Data

ClinVar Variation Id: 226127
dbSNP Id: rs879255556
gnomAD v4: 7-23167919-T-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000339077.10:c.1261T>A MANE Select ENSP00000343273.4:p.Cys421Ser
ENST00000339077.9:c.1261T>A ENSP00000343273.4:p.Cys421Ser
ENST00000409689.5:c.1117T>A ENSP00000386263.1:p.Cys373Ser
ENST00000469576.1:n.148T>A
ENST00000521082.5:c.*1269T>A ENSP00000430351.1:n.*1269T>A
NM_001031710.2:c.1261T>A NP_001026880.2:p.Cys421Ser
NM_018846.4:c.1117T>A NP_061334.4:p.Cys373Ser
NR_033328.1:n.1685T>A
XM_006715753.1:c.1300T>A XP_006715816.1:p.Cys434Ser
XM_006715754.1:c.1234T>A XP_006715817.1:p.Cys412Ser
XM_006715755.1:c.1234T>A XP_006715818.1:p.Cys412Ser
XM_006715756.1:c.1156T>A XP_006715819.1:p.Cys386Ser
XM_006715753.3:c.1300T>A XP_006715816.1:p.Cys434Ser
XM_006715754.3:c.1234T>A XP_006715817.1:p.Cys412Ser
XM_006715755.3:c.1234T>A XP_006715818.1:p.Cys412Ser
XM_006715756.3:c.1156T>A XP_006715819.1:p.Cys386Ser
XM_017012439.2:c.1195T>A XP_016867928.1:p.Cys399Ser
NM_001031710.3:c.1261T>A MANE Select NP_001026880.2:p.Cys421Ser
NM_018846.5:c.1117T>A NP_061334.4:p.Cys373Ser
NR_033328.2:n.1634T>A