Canonical Allele Identifier: CA366981628

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 2040347
• ClinVar RCV Id: RCV002886379
• MyVariant Identifiers: chr7:g.23205554G>A (hg19) ; chr7:g.23165935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165935G>A , CM000669.2:g.23165935G>A	GRCh38
NC_000007.13:g.23205554G>A , CM000669.1:g.23205554G>A	GRCh37
NC_000007.12:g.23172079G>A	NCBI36
NG_016983.1:g.65202G>A
NG_016983.2:g.65202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1174G>A MANE Select	ENSP00000343273.4:p.Val392Ile
ENST00000339077.9:c.1174G>A	ENSP00000343273.4:p.Val392Ile
ENST00000409689.5:c.1030G>A	ENSP00000386263.1:p.Val344Ile
ENST00000469576.1:n.61G>A
ENST00000521082.5:c.*1182G>A	ENSP00000430351.1:n.*1182G>A
NM_001031710.2:c.1174G>A	NP_001026880.2:p.Val392Ile
NM_018846.4:c.1030G>A	NP_061334.4:p.Val344Ile
NR_033328.1:n.1598G>A
XM_006715753.1:c.1213G>A	XP_006715816.1:p.Val405Ile
XM_006715754.1:c.1147G>A	XP_006715817.1:p.Val383Ile
XM_006715755.1:c.1147G>A	XP_006715818.1:p.Val383Ile
XM_006715756.1:c.1069G>A	XP_006715819.1:p.Val357Ile
XM_006715753.3:c.1213G>A	XP_006715816.1:p.Val405Ile
XM_006715754.3:c.1147G>A	XP_006715817.1:p.Val383Ile
XM_006715755.3:c.1147G>A	XP_006715818.1:p.Val383Ile
XM_006715756.3:c.1069G>A	XP_006715819.1:p.Val357Ile
XM_017012439.2:c.1108G>A	XP_016867928.1:p.Val370Ile
NM_001031710.3:c.1174G>A MANE Select	NP_001026880.2:p.Val392Ile
NM_018846.5:c.1030G>A	NP_061334.4:p.Val344Ile
NR_033328.2:n.1547G>A