Canonical Allele Identifier: CA4186539

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1121875
• ClinVar RCV Id: RCV001452299
• dbSNP Id: rs199531564
• ExAC: 7:23205373 C / T
• gnomAD v2: 7-23205373-C-T
• gnomAD v3: 7-23165754-C-T
• gnomAD v4: 7-23165754-C-T
• COSMIC: COSM746411 ; COSM746412
• MyVariant Identifiers: chr7:g.23205373C>T (hg19) ; chr7:g.23165754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165754C>T , CM000669.2:g.23165754C>T	GRCh38
NC_000007.13:g.23205373C>T , CM000669.1:g.23205373C>T	GRCh37
NC_000007.12:g.23171898C>T	NCBI36
NG_016983.1:g.65021C>T
NG_016983.2:g.65021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.993C>T MANE Select	ENSP00000343273.4:p.Cys331=
ENST00000339077.9:c.993C>T	ENSP00000343273.4:p.Cys331=
ENST00000409689.5:c.849C>T	ENSP00000386263.1:p.Cys283=
ENST00000521082.5:c.*1001C>T	ENSP00000430351.1:n.*1001C>T
NM_001031710.2:c.993C>T	NP_001026880.2:p.Cys331=
NM_018846.4:c.849C>T	NP_061334.4:p.Cys283=
NR_033328.1:n.1417C>T
XM_006715753.1:c.1032C>T	XP_006715816.1:p.Cys344=
XM_006715754.1:c.966C>T	XP_006715817.1:p.Cys322=
XM_006715755.1:c.966C>T	XP_006715818.1:p.Cys322=
XM_006715756.1:c.888C>T	XP_006715819.1:p.Cys296=
XM_006715753.3:c.1032C>T	XP_006715816.1:p.Cys344=
XM_006715754.3:c.966C>T	XP_006715817.1:p.Cys322=
XM_006715755.3:c.966C>T	XP_006715818.1:p.Cys322=
XM_006715756.3:c.888C>T	XP_006715819.1:p.Cys296=
XM_017012439.2:c.927C>T	XP_016867928.1:p.Cys309=
NM_001031710.3:c.993C>T MANE Select	NP_001026880.2:p.Cys331=
NM_018846.5:c.849C>T	NP_061334.4:p.Cys283=
NR_033328.2:n.1366C>T