Canonical Allele Identifier: CA366981120

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165711-C-G
• MyVariant Identifiers: chr7:g.23205330C>G (hg19) ; chr7:g.23165711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165711C>G , CM000669.2:g.23165711C>G	GRCh38
NC_000007.13:g.23205330C>G , CM000669.1:g.23205330C>G	GRCh37
NC_000007.12:g.23171855C>G	NCBI36
NG_016983.1:g.64978C>G
NG_016983.2:g.64978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.950C>G MANE Select	ENSP00000343273.4:p.Thr317Arg
ENST00000339077.9:c.950C>G	ENSP00000343273.4:p.Thr317Arg
ENST00000409689.5:c.806C>G	ENSP00000386263.1:p.Thr269Arg
ENST00000521082.5:c.*958C>G	ENSP00000430351.1:n.*958C>G
NM_001031710.2:c.950C>G	NP_001026880.2:p.Thr317Arg
NM_018846.4:c.806C>G	NP_061334.4:p.Thr269Arg
NR_033328.1:n.1374C>G
XM_006715753.1:c.989C>G	XP_006715816.1:p.Thr330Arg
XM_006715754.1:c.923C>G	XP_006715817.1:p.Thr308Arg
XM_006715755.1:c.923C>G	XP_006715818.1:p.Thr308Arg
XM_006715756.1:c.845C>G	XP_006715819.1:p.Thr282Arg
XM_006715753.3:c.989C>G	XP_006715816.1:p.Thr330Arg
XM_006715754.3:c.923C>G	XP_006715817.1:p.Thr308Arg
XM_006715755.3:c.923C>G	XP_006715818.1:p.Thr308Arg
XM_006715756.3:c.845C>G	XP_006715819.1:p.Thr282Arg
XM_017012439.2:c.884C>G	XP_016867928.1:p.Thr295Arg
NM_001031710.3:c.950C>G MANE Select	NP_001026880.2:p.Thr317Arg
NM_018846.5:c.806C>G	NP_061334.4:p.Thr269Arg
NR_033328.2:n.1323C>G