Canonical Allele Identifier: CA4186548

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1078790
• ClinVar RCV Id: RCV001393826
• dbSNP Id: rs762252955
• ExAC: 7:23205517 T / C
• gnomAD v2: 7-23205517-T-C
• gnomAD v4: 7-23165898-T-C
• MyVariant Identifiers: chr7:g.23205517T>C (hg19) ; chr7:g.23165898T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165898T>C , CM000669.2:g.23165898T>C	GRCh38
NC_000007.13:g.23205517T>C , CM000669.1:g.23205517T>C	GRCh37
NC_000007.12:g.23172042T>C	NCBI36
NG_016983.1:g.65165T>C
NG_016983.2:g.65165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1137T>C MANE Select	ENSP00000343273.4:p.Ala379=
ENST00000339077.9:c.1137T>C	ENSP00000343273.4:p.Ala379=
ENST00000409689.5:c.993T>C	ENSP00000386263.1:p.Ala331=
ENST00000469576.1:n.24T>C
ENST00000521082.5:c.*1145T>C	ENSP00000430351.1:n.*1145T>C
NM_001031710.2:c.1137T>C	NP_001026880.2:p.Ala379=
NM_018846.4:c.993T>C	NP_061334.4:p.Ala331=
NR_033328.1:n.1561T>C
XM_006715753.1:c.1176T>C	XP_006715816.1:p.Ala392=
XM_006715754.1:c.1110T>C	XP_006715817.1:p.Ala370=
XM_006715755.1:c.1110T>C	XP_006715818.1:p.Ala370=
XM_006715756.1:c.1032T>C	XP_006715819.1:p.Ala344=
XM_006715753.3:c.1176T>C	XP_006715816.1:p.Ala392=
XM_006715754.3:c.1110T>C	XP_006715817.1:p.Ala370=
XM_006715755.3:c.1110T>C	XP_006715818.1:p.Ala370=
XM_006715756.3:c.1032T>C	XP_006715819.1:p.Ala344=
XM_017012439.2:c.1071T>C	XP_016867928.1:p.Ala357=
NM_001031710.3:c.1137T>C MANE Select	NP_001026880.2:p.Ala379=
NM_018846.5:c.993T>C	NP_061334.4:p.Ala331=
NR_033328.2:n.1510T>C