Canonical Allele Identifier: CA2580076950

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 2010257
• ClinVar RCV Id: RCV002833853

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165945A>C , CM000669.2:g.23165945A>C	GRCh38
NC_000007.13:g.23205564A>C , CM000669.1:g.23205564A>C	GRCh37
NC_000007.12:g.23172089A>C	NCBI36
NG_016983.1:g.65212A>C
NG_016983.2:g.65212A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+7A>C MANE Select	ENSP00000343273.4:n.1177+7A>C
ENST00000339077.9:c.1177+7A>C	ENSP00000343273.4:n.1177+7A>C
ENST00000409689.5:c.1033+7A>C	ENSP00000386263.1:n.1033+7A>C
ENST00000469576.1:n.64+7A>C
ENST00000521082.5:c.*1185+7A>C	ENSP00000430351.1:n.*1185+7A>C
NM_001031710.2:c.1177+7A>C	NP_001026880.2:n.1177+7A>C
NM_018846.4:c.1033+7A>C	NP_061334.4:n.1033+7A>C
NR_033328.1:n.1601+7A>C
XM_006715753.1:c.1216+7A>C	XP_006715816.1:n.1216+7A>C
XM_006715754.1:c.1150+7A>C	XP_006715817.1:n.1150+7A>C
XM_006715755.1:c.1150+7A>C	XP_006715818.1:n.1150+7A>C
XM_006715756.1:c.1072+7A>C	XP_006715819.1:n.1072+7A>C
XM_006715753.3:c.1216+7A>C	XP_006715816.1:n.1216+7A>C
XM_006715754.3:c.1150+7A>C	XP_006715817.1:n.1150+7A>C
XM_006715755.3:c.1150+7A>C	XP_006715818.1:n.1150+7A>C
XM_006715756.3:c.1072+7A>C	XP_006715819.1:n.1072+7A>C
XM_017012439.2:c.1111+7A>C	XP_016867928.1:n.1111+7A>C
NM_001031710.3:c.1177+7A>C MANE Select	NP_001026880.2:n.1177+7A>C
NM_018846.5:c.1033+7A>C	NP_061334.4:n.1033+7A>C
NR_033328.2:n.1550+7A>C