Canonical Allele Identifier: CA366981110

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205326T>A (hg19) ; chr7:g.23165707T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165707T>A , CM000669.2:g.23165707T>A	GRCh38
NC_000007.13:g.23205326T>A , CM000669.1:g.23205326T>A	GRCh37
NC_000007.12:g.23171851T>A	NCBI36
NG_016983.1:g.64974T>A
NG_016983.2:g.64974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.946T>A MANE Select	ENSP00000343273.4:p.Trp316Arg
ENST00000339077.9:c.946T>A	ENSP00000343273.4:p.Trp316Arg
ENST00000409689.5:c.802T>A	ENSP00000386263.1:p.Trp268Arg
ENST00000521082.5:c.*954T>A	ENSP00000430351.1:n.*954T>A
NM_001031710.2:c.946T>A	NP_001026880.2:p.Trp316Arg
NM_018846.4:c.802T>A	NP_061334.4:p.Trp268Arg
NR_033328.1:n.1370T>A
XM_006715753.1:c.985T>A	XP_006715816.1:p.Trp329Arg
XM_006715754.1:c.919T>A	XP_006715817.1:p.Trp307Arg
XM_006715755.1:c.919T>A	XP_006715818.1:p.Trp307Arg
XM_006715756.1:c.841T>A	XP_006715819.1:p.Trp281Arg
XM_006715753.3:c.985T>A	XP_006715816.1:p.Trp329Arg
XM_006715754.3:c.919T>A	XP_006715817.1:p.Trp307Arg
XM_006715755.3:c.919T>A	XP_006715818.1:p.Trp307Arg
XM_006715756.3:c.841T>A	XP_006715819.1:p.Trp281Arg
XM_017012439.2:c.880T>A	XP_016867928.1:p.Trp294Arg
NM_001031710.3:c.946T>A MANE Select	NP_001026880.2:p.Trp316Arg
NM_018846.5:c.802T>A	NP_061334.4:p.Trp268Arg
NR_033328.2:n.1319T>A