Canonical Allele Identifier: CA4186536

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 279824
• ClinVar RCV Id: RCV000361299 ; RCV000677266 ; RCV000991232 ; RCV003888670
• dbSNP Id: rs77078070
• ExAC: 7:23205356 C / T
• gnomAD v2: 7-23205356-C-T
• gnomAD v3: 7-23165737-C-T
• gnomAD v4: 7-23165737-C-T
• MyVariant Identifiers: chr7:g.23205356C>T (hg19) ; chr7:g.23165737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165737C>T , CM000669.2:g.23165737C>T	GRCh38
NC_000007.13:g.23205356C>T , CM000669.1:g.23205356C>T	GRCh37
NC_000007.12:g.23171881C>T	NCBI36
NG_016983.1:g.65004C>T
NG_016983.2:g.65004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.976C>T MANE Select	ENSP00000343273.4:p.Arg326Ter
ENST00000339077.9:c.976C>T	ENSP00000343273.4:p.Arg326Ter
ENST00000409689.5:c.832C>T	ENSP00000386263.1:p.Arg278Ter
ENST00000521082.5:c.*984C>T	ENSP00000430351.1:n.*984C>T
NM_001031710.2:c.976C>T	NP_001026880.2:p.Arg326Ter
NM_018846.4:c.832C>T	NP_061334.4:p.Arg278Ter
NR_033328.1:n.1400C>T
XM_006715753.1:c.1015C>T	XP_006715816.1:p.Arg339Ter
XM_006715754.1:c.949C>T	XP_006715817.1:p.Arg317Ter
XM_006715755.1:c.949C>T	XP_006715818.1:p.Arg317Ter
XM_006715756.1:c.871C>T	XP_006715819.1:p.Arg291Ter
XM_006715753.3:c.1015C>T	XP_006715816.1:p.Arg339Ter
XM_006715754.3:c.949C>T	XP_006715817.1:p.Arg317Ter
XM_006715755.3:c.949C>T	XP_006715818.1:p.Arg317Ter
XM_006715756.3:c.871C>T	XP_006715819.1:p.Arg291Ter
XM_017012439.2:c.910C>T	XP_016867928.1:p.Arg304Ter
NM_001031710.3:c.976C>T MANE Select	NP_001026880.2:p.Arg326Ter
NM_018846.5:c.832C>T	NP_061334.4:p.Arg278Ter
NR_033328.2:n.1349C>T