Canonical Allele Identifier: CA366981098

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165702-A-G
• MyVariant Identifiers: chr7:g.23205321A>G (hg19) ; chr7:g.23165702A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165702A>G , CM000669.2:g.23165702A>G	GRCh38
NC_000007.13:g.23205321A>G , CM000669.1:g.23205321A>G	GRCh37
NC_000007.12:g.23171846A>G	NCBI36
NG_016983.1:g.64969A>G
NG_016983.2:g.64969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.941A>G MANE Select	ENSP00000343273.4:p.Tyr314Cys
ENST00000339077.9:c.941A>G	ENSP00000343273.4:p.Tyr314Cys
ENST00000409689.5:c.797A>G	ENSP00000386263.1:p.Tyr266Cys
ENST00000521082.5:c.*949A>G	ENSP00000430351.1:n.*949A>G
NM_001031710.2:c.941A>G	NP_001026880.2:p.Tyr314Cys
NM_018846.4:c.797A>G	NP_061334.4:p.Tyr266Cys
NR_033328.1:n.1365A>G
XM_006715753.1:c.980A>G	XP_006715816.1:p.Tyr327Cys
XM_006715754.1:c.914A>G	XP_006715817.1:p.Tyr305Cys
XM_006715755.1:c.914A>G	XP_006715818.1:p.Tyr305Cys
XM_006715756.1:c.836A>G	XP_006715819.1:p.Tyr279Cys
XM_006715753.3:c.980A>G	XP_006715816.1:p.Tyr327Cys
XM_006715754.3:c.914A>G	XP_006715817.1:p.Tyr305Cys
XM_006715755.3:c.914A>G	XP_006715818.1:p.Tyr305Cys
XM_006715756.3:c.836A>G	XP_006715819.1:p.Tyr279Cys
XM_017012439.2:c.875A>G	XP_016867928.1:p.Tyr292Cys
NM_001031710.3:c.941A>G MANE Select	NP_001026880.2:p.Tyr314Cys
NM_018846.5:c.797A>G	NP_061334.4:p.Tyr266Cys
NR_033328.2:n.1314A>G