Canonical Allele Identifier: CA366981554

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1704186
• ClinVar RCV Id: RCV002281521
• MyVariant Identifiers: chr7:g.23205519C>G (hg19) ; chr7:g.23165900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165900C>G , CM000669.2:g.23165900C>G	GRCh38
NC_000007.13:g.23205519C>G , CM000669.1:g.23205519C>G	GRCh37
NC_000007.12:g.23172044C>G	NCBI36
NG_016983.1:g.65167C>G
NG_016983.2:g.65167C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1139C>G MANE Select	ENSP00000343273.4:p.Ala380Gly
ENST00000339077.9:c.1139C>G	ENSP00000343273.4:p.Ala380Gly
ENST00000409689.5:c.995C>G	ENSP00000386263.1:p.Ala332Gly
ENST00000469576.1:n.26C>G
ENST00000521082.5:c.*1147C>G	ENSP00000430351.1:n.*1147C>G
NM_001031710.2:c.1139C>G	NP_001026880.2:p.Ala380Gly
NM_018846.4:c.995C>G	NP_061334.4:p.Ala332Gly
NR_033328.1:n.1563C>G
XM_006715753.1:c.1178C>G	XP_006715816.1:p.Ala393Gly
XM_006715754.1:c.1112C>G	XP_006715817.1:p.Ala371Gly
XM_006715755.1:c.1112C>G	XP_006715818.1:p.Ala371Gly
XM_006715756.1:c.1034C>G	XP_006715819.1:p.Ala345Gly
XM_006715753.3:c.1178C>G	XP_006715816.1:p.Ala393Gly
XM_006715754.3:c.1112C>G	XP_006715817.1:p.Ala371Gly
XM_006715755.3:c.1112C>G	XP_006715818.1:p.Ala371Gly
XM_006715756.3:c.1034C>G	XP_006715819.1:p.Ala345Gly
XM_017012439.2:c.1073C>G	XP_016867928.1:p.Ala358Gly
NM_001031710.3:c.1139C>G MANE Select	NP_001026880.2:p.Ala380Gly
NM_018846.5:c.995C>G	NP_061334.4:p.Ala332Gly
NR_033328.2:n.1512C>G