Canonical Allele Identifier: CA4186557
Gene: KLHL7 HGNC NCBI

Linked Data

dbSNP Id: rs758278150
gnomAD v2: 7-23205581-G-T
gnomAD v3: 7-23165962-G-T
gnomAD v4: 7-23165962-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165962G>T , CM000669.2:g.23165962G>T GRCh38
NC_000007.13:g.23205581G>T , CM000669.1:g.23205581G>T GRCh37
NC_000007.12:g.23172106G>T NCBI36
NG_016983.1:g.65229G>T
NG_016983.2:g.65229G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+24G>T MANE Select ENSP00000343273.4:n.1177+24G>T
ENST00000339077.9:c.1177+24G>T ENSP00000343273.4:n.1177+24G>T
ENST00000409689.5:c.1033+24G>T ENSP00000386263.1:n.1033+24G>T
ENST00000469576.1:n.64+24G>T
ENST00000521082.5:c.*1185+24G>T ENSP00000430351.1:n.*1185+24G>T
NM_001031710.2:c.1177+24G>T NP_001026880.2:n.1177+24G>T
NM_018846.4:c.1033+24G>T NP_061334.4:n.1033+24G>T
NR_033328.1:n.1601+24G>T
XM_006715753.1:c.1216+24G>T XP_006715816.1:n.1216+24G>T
XM_006715754.1:c.1150+24G>T XP_006715817.1:n.1150+24G>T
XM_006715755.1:c.1150+24G>T XP_006715818.1:n.1150+24G>T
XM_006715756.1:c.1072+24G>T XP_006715819.1:n.1072+24G>T
XM_006715753.3:c.1216+24G>T XP_006715816.1:n.1216+24G>T
XM_006715754.3:c.1150+24G>T XP_006715817.1:n.1150+24G>T
XM_006715755.3:c.1150+24G>T XP_006715818.1:n.1150+24G>T
XM_006715756.3:c.1072+24G>T XP_006715819.1:n.1072+24G>T
XM_017012439.2:c.1111+24G>T XP_016867928.1:n.1111+24G>T
NM_001031710.3:c.1177+24G>T MANE Select NP_001026880.2:n.1177+24G>T
NM_018846.5:c.1033+24G>T NP_061334.4:n.1033+24G>T
NR_033328.2:n.1550+24G>T