Canonical Allele Identifier: CA366981583

Gene: KLHL7

Linked Data

• COSMIC: COSM275765 ; COSM4696600
• MyVariant Identifiers: chr7:g.23205532T>G (hg19) ; chr7:g.23165913T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165913T>G , CM000669.2:g.23165913T>G	GRCh38
NC_000007.13:g.23205532T>G , CM000669.1:g.23205532T>G	GRCh37
NC_000007.12:g.23172057T>G	NCBI36
NG_016983.1:g.65180T>G
NG_016983.2:g.65180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1152T>G MANE Select	ENSP00000343273.4:p.Ile384Met
ENST00000339077.9:c.1152T>G	ENSP00000343273.4:p.Ile384Met
ENST00000409689.5:c.1008T>G	ENSP00000386263.1:p.Ile336Met
ENST00000469576.1:n.39T>G
ENST00000521082.5:c.*1160T>G	ENSP00000430351.1:n.*1160T>G
NM_001031710.2:c.1152T>G	NP_001026880.2:p.Ile384Met
NM_018846.4:c.1008T>G	NP_061334.4:p.Ile336Met
NR_033328.1:n.1576T>G
XM_006715753.1:c.1191T>G	XP_006715816.1:p.Ile397Met
XM_006715754.1:c.1125T>G	XP_006715817.1:p.Ile375Met
XM_006715755.1:c.1125T>G	XP_006715818.1:p.Ile375Met
XM_006715756.1:c.1047T>G	XP_006715819.1:p.Ile349Met
XM_006715753.3:c.1191T>G	XP_006715816.1:p.Ile397Met
XM_006715754.3:c.1125T>G	XP_006715817.1:p.Ile375Met
XM_006715755.3:c.1125T>G	XP_006715818.1:p.Ile375Met
XM_006715756.3:c.1047T>G	XP_006715819.1:p.Ile349Met
XM_017012439.2:c.1086T>G	XP_016867928.1:p.Ile362Met
NM_001031710.3:c.1152T>G MANE Select	NP_001026880.2:p.Ile384Met
NM_018846.5:c.1008T>G	NP_061334.4:p.Ile336Met
NR_033328.2:n.1525T>G