Canonical Allele Identifier: CA366981177
Gene: KLHL7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165735A>T , CM000669.2:g.23165735A>T GRCh38
NC_000007.13:g.23205354A>T , CM000669.1:g.23205354A>T GRCh37
NC_000007.12:g.23171879A>T NCBI36
NG_016983.1:g.65002A>T
NG_016983.2:g.65002A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.974A>T MANE Select ENSP00000343273.4:p.Lys325Ile
ENST00000339077.9:c.974A>T ENSP00000343273.4:p.Lys325Ile
ENST00000409689.5:c.830A>T ENSP00000386263.1:p.Lys277Ile
ENST00000521082.5:c.*982A>T ENSP00000430351.1:n.*982A>T
NM_001031710.2:c.974A>T NP_001026880.2:p.Lys325Ile
NM_018846.4:c.830A>T NP_061334.4:p.Lys277Ile
NR_033328.1:n.1398A>T
XM_006715753.1:c.1013A>T XP_006715816.1:p.Lys338Ile
XM_006715754.1:c.947A>T XP_006715817.1:p.Lys316Ile
XM_006715755.1:c.947A>T XP_006715818.1:p.Lys316Ile
XM_006715756.1:c.869A>T XP_006715819.1:p.Lys290Ile
XM_006715753.3:c.1013A>T XP_006715816.1:p.Lys338Ile
XM_006715754.3:c.947A>T XP_006715817.1:p.Lys316Ile
XM_006715755.3:c.947A>T XP_006715818.1:p.Lys316Ile
XM_006715756.3:c.869A>T XP_006715819.1:p.Lys290Ile
XM_017012439.2:c.908A>T XP_016867928.1:p.Lys303Ile
NM_001031710.3:c.974A>T MANE Select NP_001026880.2:p.Lys325Ile
NM_018846.5:c.830A>T NP_061334.4:p.Lys277Ile
NR_033328.2:n.1347A>T