Canonical Allele Identifier: CA454140976
Gene: KLHL7 HGNC NCBI

Linked Data

gnomAD v3: 7-23165787-A-T
gnomAD v4: 7-23165787-A-T
MyVariant Identifiers: chr7:g.23205406A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165787A>T , CM000669.2:g.23165787A>T GRCh38
NC_000007.13:g.23205406A>T , CM000669.1:g.23205406A>T GRCh37
NC_000007.12:g.23171931A>T NCBI36
NG_016983.1:g.65054A>T
NG_016983.2:g.65054A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1026A>T MANE Select ENSP00000343273.4:p.Gly342=
ENST00000339077.9:c.1026A>T ENSP00000343273.4:p.Gly342=
ENST00000409689.5:c.882A>T ENSP00000386263.1:p.Gly294=
ENST00000521082.5:c.*1034A>T ENSP00000430351.1:n.*1034A>T
NM_001031710.2:c.1026A>T NP_001026880.2:p.Gly342=
NM_018846.4:c.882A>T NP_061334.4:p.Gly294=
NR_033328.1:n.1450A>T
XM_006715753.1:c.1065A>T XP_006715816.1:p.Gly355=
XM_006715754.1:c.999A>T XP_006715817.1:p.Gly333=
XM_006715755.1:c.999A>T XP_006715818.1:p.Gly333=
XM_006715756.1:c.921A>T XP_006715819.1:p.Gly307=
XM_006715753.3:c.1065A>T XP_006715816.1:p.Gly355=
XM_006715754.3:c.999A>T XP_006715817.1:p.Gly333=
XM_006715755.3:c.999A>T XP_006715818.1:p.Gly333=
XM_006715756.3:c.921A>T XP_006715819.1:p.Gly307=
XM_017012439.2:c.960A>T XP_016867928.1:p.Gly320=
NM_001031710.3:c.1026A>T MANE Select NP_001026880.2:p.Gly342=
NM_018846.5:c.882A>T NP_061334.4:p.Gly294=
NR_033328.2:n.1399A>T