Canonical Allele Identifier: CA2682028384
Gene: KLHL7 HGNC NCBI

Linked Data

gnomAD v4: 7-23166026-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166026A>G , CM000669.2:g.23166026A>G GRCh38
NC_000007.13:g.23205645A>G , CM000669.1:g.23205645A>G GRCh37
NC_000007.12:g.23172170A>G NCBI36
NG_016983.1:g.65293A>G
NG_016983.2:g.65293A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+88A>G MANE Select ENSP00000343273.4:n.1177+88A>G
ENST00000339077.9:c.1177+88A>G ENSP00000343273.4:n.1177+88A>G
ENST00000409689.5:c.1033+88A>G ENSP00000386263.1:n.1033+88A>G
ENST00000469576.1:n.64+88A>G
ENST00000521082.5:c.*1185+88A>G ENSP00000430351.1:n.*1185+88A>G
NM_001031710.2:c.1177+88A>G NP_001026880.2:n.1177+88A>G
NM_018846.4:c.1033+88A>G NP_061334.4:n.1033+88A>G
NR_033328.1:n.1601+88A>G
XM_006715753.1:c.1216+88A>G XP_006715816.1:n.1216+88A>G
XM_006715754.1:c.1150+88A>G XP_006715817.1:n.1150+88A>G
XM_006715755.1:c.1150+88A>G XP_006715818.1:n.1150+88A>G
XM_006715756.1:c.1072+88A>G XP_006715819.1:n.1072+88A>G
XM_006715753.3:c.1216+88A>G XP_006715816.1:n.1216+88A>G
XM_006715754.3:c.1150+88A>G XP_006715817.1:n.1150+88A>G
XM_006715755.3:c.1150+88A>G XP_006715818.1:n.1150+88A>G
XM_006715756.3:c.1072+88A>G XP_006715819.1:n.1072+88A>G
XM_017012439.2:c.1111+88A>G XP_016867928.1:n.1111+88A>G
NM_001031710.3:c.1177+88A>G MANE Select NP_001026880.2:n.1177+88A>G
NM_018846.5:c.1033+88A>G NP_061334.4:n.1033+88A>G
NR_033328.2:n.1550+88A>G