Canonical Allele Identifier: CA221427
Gene: KLHL7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1009
ClinVar RCV Id: RCV000001064 RCV000079374 RCV001003071 RCV001073803
dbSNP Id: rs137853113
MyVariant Identifiers: chr7:g.23180403C>T (hg19) chr7:g.23140784C>T (hg38)
PubMed: PMID:19520207 PMID:21828050
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23140784C>T , CM000669.2:g.23140784C>T GRCh38
NC_000007.13:g.23180403C>T , CM000669.1:g.23180403C>T GRCh37
NC_000007.12:g.23146928C>T NCBI36
NG_016983.1:g.40051C>T
NG_016983.2:g.40051C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000339077.10:c.458C>T MANE Select ENSP00000343273.4:p.Ala153Val
ENST00000339077.9:c.458C>T ENSP00000343273.4:p.Ala153Val
ENST00000409689.5:c.314C>T ENSP00000386263.1:p.Ala105Val
ENST00000459661.5:n.592C>T
ENST00000479288.5:n.405C>T
ENST00000521082.5:c.*466C>T ENSP00000430351.1:n.*466C>T
NM_001031710.2:c.458C>T NP_001026880.2:p.Ala153Val
NM_018846.4:c.314C>T NP_061334.4:p.Ala105Val
NR_033328.1:n.882C>T
XM_006715753.1:c.497C>T XP_006715816.1:p.Ala166Val
XM_006715754.1:c.431C>T XP_006715817.1:p.Ala144Val
XM_006715755.1:c.431C>T XP_006715818.1:p.Ala144Val
XM_006715756.1:c.353C>T XP_006715819.1:p.Ala118Val
XM_006715757.2:c.497C>T XP_006715820.1:p.Ala166Val
XM_006715753.3:c.497C>T XP_006715816.1:p.Ala166Val
XM_006715754.3:c.431C>T XP_006715817.1:p.Ala144Val
XM_006715755.3:c.431C>T XP_006715818.1:p.Ala144Val
XM_006715756.3:c.353C>T XP_006715819.1:p.Ala118Val
XM_006715757.4:c.497C>T XP_006715820.1:p.Ala166Val
XM_017012439.2:c.392C>T XP_016867928.1:p.Ala131Val
XM_017012440.2:c.458C>T XP_016867929.1:p.Ala153Val
XM_017012441.2:c.392C>T XP_016867930.1:p.Ala131Val
NM_001031710.3:c.458C>T MANE Select NP_001026880.2:p.Ala153Val
NM_018846.5:c.314C>T NP_061334.4:p.Ala105Val
NR_033328.2:n.831C>T
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