Canonical Allele Identifier: CA366981571
Gene: KLHL7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165908A>G , CM000669.2:g.23165908A>G GRCh38
NC_000007.13:g.23205527A>G , CM000669.1:g.23205527A>G GRCh37
NC_000007.12:g.23172052A>G NCBI36
NG_016983.1:g.65175A>G
NG_016983.2:g.65175A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1147A>G MANE Select ENSP00000343273.4:p.Lys383Glu
ENST00000339077.9:c.1147A>G ENSP00000343273.4:p.Lys383Glu
ENST00000409689.5:c.1003A>G ENSP00000386263.1:p.Lys335Glu
ENST00000469576.1:n.34A>G
ENST00000521082.5:c.*1155A>G ENSP00000430351.1:n.*1155A>G
NM_001031710.2:c.1147A>G NP_001026880.2:p.Lys383Glu
NM_018846.4:c.1003A>G NP_061334.4:p.Lys335Glu
NR_033328.1:n.1571A>G
XM_006715753.1:c.1186A>G XP_006715816.1:p.Lys396Glu
XM_006715754.1:c.1120A>G XP_006715817.1:p.Lys374Glu
XM_006715755.1:c.1120A>G XP_006715818.1:p.Lys374Glu
XM_006715756.1:c.1042A>G XP_006715819.1:p.Lys348Glu
XM_006715753.3:c.1186A>G XP_006715816.1:p.Lys396Glu
XM_006715754.3:c.1120A>G XP_006715817.1:p.Lys374Glu
XM_006715755.3:c.1120A>G XP_006715818.1:p.Lys374Glu
XM_006715756.3:c.1042A>G XP_006715819.1:p.Lys348Glu
XM_017012439.2:c.1081A>G XP_016867928.1:p.Lys361Glu
NM_001031710.3:c.1147A>G MANE Select NP_001026880.2:p.Lys383Glu
NM_018846.5:c.1003A>G NP_061334.4:p.Lys335Glu
NR_033328.2:n.1520A>G