Canonical Allele Identifier: CA366981353

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 2657348
• ClinVar RCV Id: RCV003436681
• MyVariant Identifiers: chr7:g.23205432G>A (hg19) ; chr7:g.23165813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165813G>A , CM000669.2:g.23165813G>A	GRCh38
NC_000007.13:g.23205432G>A , CM000669.1:g.23205432G>A	GRCh37
NC_000007.12:g.23171957G>A	NCBI36
NG_016983.1:g.65080G>A
NG_016983.2:g.65080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1052G>A MANE Select	ENSP00000343273.4:p.Arg351Gln
ENST00000339077.9:c.1052G>A	ENSP00000343273.4:p.Arg351Gln
ENST00000409689.5:c.908G>A	ENSP00000386263.1:p.Arg303Gln
ENST00000521082.5:c.*1060G>A	ENSP00000430351.1:n.*1060G>A
NM_001031710.2:c.1052G>A	NP_001026880.2:p.Arg351Gln
NM_018846.4:c.908G>A	NP_061334.4:p.Arg303Gln
NR_033328.1:n.1476G>A
XM_006715753.1:c.1091G>A	XP_006715816.1:p.Arg364Gln
XM_006715754.1:c.1025G>A	XP_006715817.1:p.Arg342Gln
XM_006715755.1:c.1025G>A	XP_006715818.1:p.Arg342Gln
XM_006715756.1:c.947G>A	XP_006715819.1:p.Arg316Gln
XM_006715753.3:c.1091G>A	XP_006715816.1:p.Arg364Gln
XM_006715754.3:c.1025G>A	XP_006715817.1:p.Arg342Gln
XM_006715755.3:c.1025G>A	XP_006715818.1:p.Arg342Gln
XM_006715756.3:c.947G>A	XP_006715819.1:p.Arg316Gln
XM_017012439.2:c.986G>A	XP_016867928.1:p.Arg329Gln
NM_001031710.3:c.1052G>A MANE Select	NP_001026880.2:p.Arg351Gln
NM_018846.5:c.908G>A	NP_061334.4:p.Arg303Gln
NR_033328.2:n.1425G>A