Canonical Allele Identifier: CA366981535

Gene: KLHL7

Linked Data

• COSMIC: COSM6224985 ; COSM6224986
• MyVariant Identifiers: chr7:g.23205510C>T (hg19) ; chr7:g.23165891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165891C>T , CM000669.2:g.23165891C>T	GRCh38
NC_000007.13:g.23205510C>T , CM000669.1:g.23205510C>T	GRCh37
NC_000007.12:g.23172035C>T	NCBI36
NG_016983.1:g.65158C>T
NG_016983.2:g.65158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1130C>T MANE Select	ENSP00000343273.4:p.Ala377Val
ENST00000339077.9:c.1130C>T	ENSP00000343273.4:p.Ala377Val
ENST00000409689.5:c.986C>T	ENSP00000386263.1:p.Ala329Val
ENST00000469576.1:n.17C>T
ENST00000521082.5:c.*1138C>T	ENSP00000430351.1:n.*1138C>T
NM_001031710.2:c.1130C>T	NP_001026880.2:p.Ala377Val
NM_018846.4:c.986C>T	NP_061334.4:p.Ala329Val
NR_033328.1:n.1554C>T
XM_006715753.1:c.1169C>T	XP_006715816.1:p.Ala390Val
XM_006715754.1:c.1103C>T	XP_006715817.1:p.Ala368Val
XM_006715755.1:c.1103C>T	XP_006715818.1:p.Ala368Val
XM_006715756.1:c.1025C>T	XP_006715819.1:p.Ala342Val
XM_006715753.3:c.1169C>T	XP_006715816.1:p.Ala390Val
XM_006715754.3:c.1103C>T	XP_006715817.1:p.Ala368Val
XM_006715755.3:c.1103C>T	XP_006715818.1:p.Ala368Val
XM_006715756.3:c.1025C>T	XP_006715819.1:p.Ala342Val
XM_017012439.2:c.1064C>T	XP_016867928.1:p.Ala355Val
NM_001031710.3:c.1130C>T MANE Select	NP_001026880.2:p.Ala377Val
NM_018846.5:c.986C>T	NP_061334.4:p.Ala329Val
NR_033328.2:n.1503C>T