Canonical Allele Identifier: CA366981161

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205348T>G (hg19) ; chr7:g.23165729T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165729T>G , CM000669.2:g.23165729T>G	GRCh38
NC_000007.13:g.23205348T>G , CM000669.1:g.23205348T>G	GRCh37
NC_000007.12:g.23171873T>G	NCBI36
NG_016983.1:g.64996T>G
NG_016983.2:g.64996T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.968T>G MANE Select	ENSP00000343273.4:p.Phe323Cys
ENST00000339077.9:c.968T>G	ENSP00000343273.4:p.Phe323Cys
ENST00000409689.5:c.824T>G	ENSP00000386263.1:p.Phe275Cys
ENST00000521082.5:c.*976T>G	ENSP00000430351.1:n.*976T>G
NM_001031710.2:c.968T>G	NP_001026880.2:p.Phe323Cys
NM_018846.4:c.824T>G	NP_061334.4:p.Phe275Cys
NR_033328.1:n.1392T>G
XM_006715753.1:c.1007T>G	XP_006715816.1:p.Phe336Cys
XM_006715754.1:c.941T>G	XP_006715817.1:p.Phe314Cys
XM_006715755.1:c.941T>G	XP_006715818.1:p.Phe314Cys
XM_006715756.1:c.863T>G	XP_006715819.1:p.Phe288Cys
XM_006715753.3:c.1007T>G	XP_006715816.1:p.Phe336Cys
XM_006715754.3:c.941T>G	XP_006715817.1:p.Phe314Cys
XM_006715755.3:c.941T>G	XP_006715818.1:p.Phe314Cys
XM_006715756.3:c.863T>G	XP_006715819.1:p.Phe288Cys
XM_017012439.2:c.902T>G	XP_016867928.1:p.Phe301Cys
NM_001031710.3:c.968T>G MANE Select	NP_001026880.2:p.Phe323Cys
NM_018846.5:c.824T>G	NP_061334.4:p.Phe275Cys
NR_033328.2:n.1341T>G