Canonical Allele Identifier: CA366981858

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1700191
• ClinVar RCV Id: RCV002274440
• dbSNP Id: rs1583733628
• gnomAD v4: 7-23167926-A-G
• MyVariant Identifiers: chr7:g.23207545A>G (hg19) ; chr7:g.23167926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23167926A>G , CM000669.2:g.23167926A>G	GRCh38
NC_000007.13:g.23207545A>G , CM000669.1:g.23207545A>G	GRCh37
NC_000007.12:g.23174070A>G	NCBI36
NG_016983.1:g.67193A>G
NG_016983.2:g.67193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1268A>G MANE Select	ENSP00000343273.4:p.His423Arg
ENST00000339077.9:c.1268A>G	ENSP00000343273.4:p.His423Arg
ENST00000409689.5:c.1124A>G	ENSP00000386263.1:p.His375Arg
ENST00000469576.1:n.155A>G
ENST00000521082.5:c.*1276A>G	ENSP00000430351.1:n.*1276A>G
NM_001031710.2:c.1268A>G	NP_001026880.2:p.His423Arg
NM_018846.4:c.1124A>G	NP_061334.4:p.His375Arg
NR_033328.1:n.1692A>G
XM_006715753.1:c.1307A>G	XP_006715816.1:p.His436Arg
XM_006715754.1:c.1241A>G	XP_006715817.1:p.His414Arg
XM_006715755.1:c.1241A>G	XP_006715818.1:p.His414Arg
XM_006715756.1:c.1163A>G	XP_006715819.1:p.His388Arg
XM_006715753.3:c.1307A>G	XP_006715816.1:p.His436Arg
XM_006715754.3:c.1241A>G	XP_006715817.1:p.His414Arg
XM_006715755.3:c.1241A>G	XP_006715818.1:p.His414Arg
XM_006715756.3:c.1163A>G	XP_006715819.1:p.His388Arg
XM_017012439.2:c.1202A>G	XP_016867928.1:p.His401Arg
NM_001031710.3:c.1268A>G MANE Select	NP_001026880.2:p.His423Arg
NM_018846.5:c.1124A>G	NP_061334.4:p.His375Arg
NR_033328.2:n.1641A>G