Canonical Allele Identifier: CA366981859
Gene: KLHL7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23167926A>T , CM000669.2:g.23167926A>T GRCh38
NC_000007.13:g.23207545A>T , CM000669.1:g.23207545A>T GRCh37
NC_000007.12:g.23174070A>T NCBI36
NG_016983.1:g.67193A>T
NG_016983.2:g.67193A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1268A>T MANE Select ENSP00000343273.4:p.His423Leu
ENST00000339077.9:c.1268A>T ENSP00000343273.4:p.His423Leu
ENST00000409689.5:c.1124A>T ENSP00000386263.1:p.His375Leu
ENST00000469576.1:n.155A>T
ENST00000521082.5:c.*1276A>T ENSP00000430351.1:n.*1276A>T
NM_001031710.2:c.1268A>T NP_001026880.2:p.His423Leu
NM_018846.4:c.1124A>T NP_061334.4:p.His375Leu
NR_033328.1:n.1692A>T
XM_006715753.1:c.1307A>T XP_006715816.1:p.His436Leu
XM_006715754.1:c.1241A>T XP_006715817.1:p.His414Leu
XM_006715755.1:c.1241A>T XP_006715818.1:p.His414Leu
XM_006715756.1:c.1163A>T XP_006715819.1:p.His388Leu
XM_006715753.3:c.1307A>T XP_006715816.1:p.His436Leu
XM_006715754.3:c.1241A>T XP_006715817.1:p.His414Leu
XM_006715755.3:c.1241A>T XP_006715818.1:p.His414Leu
XM_006715756.3:c.1163A>T XP_006715819.1:p.His388Leu
XM_017012439.2:c.1202A>T XP_016867928.1:p.His401Leu
NM_001031710.3:c.1268A>T MANE Select NP_001026880.2:p.His423Leu
NM_018846.5:c.1124A>T NP_061334.4:p.His375Leu
NR_033328.2:n.1641A>T