Canonical Allele Identifier: CA2682028391
Gene: KLHL7 HGNC NCBI

Linked Data

gnomAD v4: 7-23166049-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166049A>T , CM000669.2:g.23166049A>T GRCh38
NC_000007.13:g.23205668A>T , CM000669.1:g.23205668A>T GRCh37
NC_000007.12:g.23172193A>T NCBI36
NG_016983.1:g.65316A>T
NG_016983.2:g.65316A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+111A>T MANE Select ENSP00000343273.4:n.1177+111A>T
ENST00000339077.9:c.1177+111A>T ENSP00000343273.4:n.1177+111A>T
ENST00000409689.5:c.1033+111A>T ENSP00000386263.1:n.1033+111A>T
ENST00000469576.1:n.64+111A>T
ENST00000521082.5:c.*1185+111A>T ENSP00000430351.1:n.*1185+111A>T
NM_001031710.2:c.1177+111A>T NP_001026880.2:n.1177+111A>T
NM_018846.4:c.1033+111A>T NP_061334.4:n.1033+111A>T
NR_033328.1:n.1601+111A>T
XM_006715753.1:c.1216+111A>T XP_006715816.1:n.1216+111A>T
XM_006715754.1:c.1150+111A>T XP_006715817.1:n.1150+111A>T
XM_006715755.1:c.1150+111A>T XP_006715818.1:n.1150+111A>T
XM_006715756.1:c.1072+111A>T XP_006715819.1:n.1072+111A>T
XM_006715753.3:c.1216+111A>T XP_006715816.1:n.1216+111A>T
XM_006715754.3:c.1150+111A>T XP_006715817.1:n.1150+111A>T
XM_006715755.3:c.1150+111A>T XP_006715818.1:n.1150+111A>T
XM_006715756.3:c.1072+111A>T XP_006715819.1:n.1072+111A>T
XM_017012439.2:c.1111+111A>T XP_016867928.1:n.1111+111A>T
NM_001031710.3:c.1177+111A>T MANE Select NP_001026880.2:n.1177+111A>T
NM_018846.5:c.1033+111A>T NP_061334.4:n.1033+111A>T
NR_033328.2:n.1550+111A>T