Canonical Allele Identifier: CA4186594

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 359800
• ClinVar RCV Id: RCV000287804 ; RCV001861302 ; RCV003888848
• dbSNP Id: rs761755398
• ExAC: 7:23207655 A / G
• gnomAD v2: 7-23207655-A-G
• gnomAD v3: 7-23168036-A-G
• gnomAD v4: 7-23168036-A-G
• MyVariant Identifiers: chr7:g.23207655A>G (hg19) ; chr7:g.23168036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23168036A>G , CM000669.2:g.23168036A>G	GRCh38
NC_000007.13:g.23207655A>G , CM000669.1:g.23207655A>G	GRCh37
NC_000007.12:g.23174180A>G	NCBI36
NG_016983.1:g.67303A>G
NG_016983.2:g.67303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1378A>G MANE Select	ENSP00000343273.4:p.Thr460Ala
ENST00000339077.9:c.1378A>G	ENSP00000343273.4:p.Thr460Ala
ENST00000409689.5:c.1234A>G	ENSP00000386263.1:p.Thr412Ala
ENST00000469576.1:n.265A>G
ENST00000521082.5:c.*1386A>G	ENSP00000430351.1:n.*1386A>G
NM_001031710.2:c.1378A>G	NP_001026880.2:p.Thr460Ala
NM_018846.4:c.1234A>G	NP_061334.4:p.Thr412Ala
NR_033328.1:n.1802A>G
XM_006715753.1:c.1417A>G	XP_006715816.1:p.Thr473Ala
XM_006715754.1:c.1351A>G	XP_006715817.1:p.Thr451Ala
XM_006715755.1:c.1351A>G	XP_006715818.1:p.Thr451Ala
XM_006715756.1:c.1273A>G	XP_006715819.1:p.Thr425Ala
XM_006715753.3:c.1417A>G	XP_006715816.1:p.Thr473Ala
XM_006715754.3:c.1351A>G	XP_006715817.1:p.Thr451Ala
XM_006715755.3:c.1351A>G	XP_006715818.1:p.Thr451Ala
XM_006715756.3:c.1273A>G	XP_006715819.1:p.Thr425Ala
XM_017012439.2:c.1312A>G	XP_016867928.1:p.Thr438Ala
NM_001031710.3:c.1378A>G MANE Select	NP_001026880.2:p.Thr460Ala
NM_018846.5:c.1234A>G	NP_061334.4:p.Thr412Ala
NR_033328.2:n.1751A>G