Canonical Allele Identifier: CA366981631
Gene: KLHL7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165936T>A , CM000669.2:g.23165936T>A GRCh38
NC_000007.13:g.23205555T>A , CM000669.1:g.23205555T>A GRCh37
NC_000007.12:g.23172080T>A NCBI36
NG_016983.1:g.65203T>A
NG_016983.2:g.65203T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1175T>A MANE Select ENSP00000343273.4:p.Val392Glu
ENST00000339077.9:c.1175T>A ENSP00000343273.4:p.Val392Glu
ENST00000409689.5:c.1031T>A ENSP00000386263.1:p.Val344Glu
ENST00000469576.1:n.62T>A
ENST00000521082.5:c.*1183T>A ENSP00000430351.1:n.*1183T>A
NM_001031710.2:c.1175T>A NP_001026880.2:p.Val392Glu
NM_018846.4:c.1031T>A NP_061334.4:p.Val344Glu
NR_033328.1:n.1599T>A
XM_006715753.1:c.1214T>A XP_006715816.1:p.Val405Glu
XM_006715754.1:c.1148T>A XP_006715817.1:p.Val383Glu
XM_006715755.1:c.1148T>A XP_006715818.1:p.Val383Glu
XM_006715756.1:c.1070T>A XP_006715819.1:p.Val357Glu
XM_006715753.3:c.1214T>A XP_006715816.1:p.Val405Glu
XM_006715754.3:c.1148T>A XP_006715817.1:p.Val383Glu
XM_006715755.3:c.1148T>A XP_006715818.1:p.Val383Glu
XM_006715756.3:c.1070T>A XP_006715819.1:p.Val357Glu
XM_017012439.2:c.1109T>A XP_016867928.1:p.Val370Glu
NM_001031710.3:c.1175T>A MANE Select NP_001026880.2:p.Val392Glu
NM_018846.5:c.1031T>A NP_061334.4:p.Val344Glu
NR_033328.2:n.1548T>A