Canonical Allele Identifier: CA366981323

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205419T>A (hg19) ; chr7:g.23165800T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165800T>A , CM000669.2:g.23165800T>A	GRCh38
NC_000007.13:g.23205419T>A , CM000669.1:g.23205419T>A	GRCh37
NC_000007.12:g.23171944T>A	NCBI36
NG_016983.1:g.65067T>A
NG_016983.2:g.65067T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1039T>A MANE Select	ENSP00000343273.4:p.Phe347Ile
ENST00000339077.9:c.1039T>A	ENSP00000343273.4:p.Phe347Ile
ENST00000409689.5:c.895T>A	ENSP00000386263.1:p.Phe299Ile
ENST00000521082.5:c.*1047T>A	ENSP00000430351.1:n.*1047T>A
NM_001031710.2:c.1039T>A	NP_001026880.2:p.Phe347Ile
NM_018846.4:c.895T>A	NP_061334.4:p.Phe299Ile
NR_033328.1:n.1463T>A
XM_006715753.1:c.1078T>A	XP_006715816.1:p.Phe360Ile
XM_006715754.1:c.1012T>A	XP_006715817.1:p.Phe338Ile
XM_006715755.1:c.1012T>A	XP_006715818.1:p.Phe338Ile
XM_006715756.1:c.934T>A	XP_006715819.1:p.Phe312Ile
XM_006715753.3:c.1078T>A	XP_006715816.1:p.Phe360Ile
XM_006715754.3:c.1012T>A	XP_006715817.1:p.Phe338Ile
XM_006715755.3:c.1012T>A	XP_006715818.1:p.Phe338Ile
XM_006715756.3:c.934T>A	XP_006715819.1:p.Phe312Ile
XM_017012439.2:c.973T>A	XP_016867928.1:p.Phe325Ile
NM_001031710.3:c.1039T>A MANE Select	NP_001026880.2:p.Phe347Ile
NM_018846.5:c.895T>A	NP_061334.4:p.Phe299Ile
NR_033328.2:n.1412T>A