Canonical Allele Identifier: CA4186478

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 452804
• ClinVar RCV Id: RCV000523837 ; RCV001057631 ; RCV002274055 ; RCV002248756
• dbSNP Id: rs375718274
• ExAC: 7:23183649 G / C
• gnomAD v2: 7-23183649-G-C
• gnomAD v3: 7-23144030-G-C
• gnomAD v4: 7-23144030-G-C
• MyVariant Identifiers: chr7:g.23183649G>C (hg19) ; chr7:g.23144030G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23144030G>C , CM000669.2:g.23144030G>C	GRCh38
NC_000007.13:g.23183649G>C , CM000669.1:g.23183649G>C	GRCh37
NC_000007.12:g.23150174G>C	NCBI36
NG_016983.1:g.43297G>C
NG_016983.2:g.43297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.793+5G>C MANE Select	ENSP00000343273.4:n.793+5G>C
ENST00000339077.9:c.793+5G>C	ENSP00000343273.4:n.793+5G>C
ENST00000409689.5:c.649+5G>C	ENSP00000386263.1:n.649+5G>C
ENST00000414163.1:c.97+5G>C	ENSP00000404181.1:n.97+5G>C
ENST00000521082.5:c.*801+5G>C	ENSP00000430351.1:n.*801+5G>C
NM_001031710.2:c.793+5G>C	NP_001026880.2:n.793+5G>C
NM_018846.4:c.649+5G>C	NP_061334.4:n.649+5G>C
NR_033328.1:n.1217+5G>C
XM_006715753.1:c.832+5G>C	XP_006715816.1:n.832+5G>C
XM_006715754.1:c.766+5G>C	XP_006715817.1:n.766+5G>C
XM_006715755.1:c.766+5G>C	XP_006715818.1:n.766+5G>C
XM_006715756.1:c.688+5G>C	XP_006715819.1:n.688+5G>C
XM_006715757.2:c.832+5G>C	XP_006715820.1:n.832+5G>C
XM_006715753.3:c.832+5G>C	XP_006715816.1:n.832+5G>C
XM_006715754.3:c.766+5G>C	XP_006715817.1:n.766+5G>C
XM_006715755.3:c.766+5G>C	XP_006715818.1:n.766+5G>C
XM_006715756.3:c.688+5G>C	XP_006715819.1:n.688+5G>C
XM_006715757.4:c.832+5G>C	XP_006715820.1:n.832+5G>C
XM_017012439.2:c.727+5G>C	XP_016867928.1:n.727+5G>C
XM_017012440.2:c.793+5G>C	XP_016867929.1:n.793+5G>C
XM_017012441.2:c.727+5G>C	XP_016867930.1:n.727+5G>C
NM_001031710.3:c.793+5G>C MANE Select	NP_001026880.2:n.793+5G>C
NM_018846.5:c.649+5G>C	NP_061334.4:n.649+5G>C
NR_033328.2:n.1166+5G>C