Canonical Allele Identifier: CA366981156

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205347T>A (hg19) ; chr7:g.23165728T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165728T>A , CM000669.2:g.23165728T>A	GRCh38
NC_000007.13:g.23205347T>A , CM000669.1:g.23205347T>A	GRCh37
NC_000007.12:g.23171872T>A	NCBI36
NG_016983.1:g.64995T>A
NG_016983.2:g.64995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.967T>A MANE Select	ENSP00000343273.4:p.Phe323Ile
ENST00000339077.9:c.967T>A	ENSP00000343273.4:p.Phe323Ile
ENST00000409689.5:c.823T>A	ENSP00000386263.1:p.Phe275Ile
ENST00000521082.5:c.*975T>A	ENSP00000430351.1:n.*975T>A
NM_001031710.2:c.967T>A	NP_001026880.2:p.Phe323Ile
NM_018846.4:c.823T>A	NP_061334.4:p.Phe275Ile
NR_033328.1:n.1391T>A
XM_006715753.1:c.1006T>A	XP_006715816.1:p.Phe336Ile
XM_006715754.1:c.940T>A	XP_006715817.1:p.Phe314Ile
XM_006715755.1:c.940T>A	XP_006715818.1:p.Phe314Ile
XM_006715756.1:c.862T>A	XP_006715819.1:p.Phe288Ile
XM_006715753.3:c.1006T>A	XP_006715816.1:p.Phe336Ile
XM_006715754.3:c.940T>A	XP_006715817.1:p.Phe314Ile
XM_006715755.3:c.940T>A	XP_006715818.1:p.Phe314Ile
XM_006715756.3:c.862T>A	XP_006715819.1:p.Phe288Ile
XM_017012439.2:c.901T>A	XP_016867928.1:p.Phe301Ile
NM_001031710.3:c.967T>A MANE Select	NP_001026880.2:p.Phe323Ile
NM_018846.5:c.823T>A	NP_061334.4:p.Phe275Ile
NR_033328.2:n.1340T>A