Canonical Allele Identifier: CA155256012

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1137795
• ClinVar RCV Id: RCV001473924
• dbSNP Id: rs762839410
• gnomAD v3: 7-23165775-A-G
• gnomAD v4: 7-23165775-A-G
• MyVariant Identifiers: chr7:g.23205394A>G (hg19) ; chr7:g.23165775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165775A>G , CM000669.2:g.23165775A>G	GRCh38
NC_000007.13:g.23205394A>G , CM000669.1:g.23205394A>G	GRCh37
NC_000007.12:g.23171919A>G	NCBI36
NG_016983.1:g.65042A>G
NG_016983.2:g.65042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1014A>G MANE Select	ENSP00000343273.4:p.Val338=
ENST00000339077.9:c.1014A>G	ENSP00000343273.4:p.Val338=
ENST00000409689.5:c.870A>G	ENSP00000386263.1:p.Val290=
ENST00000521082.5:c.*1022A>G	ENSP00000430351.1:n.*1022A>G
NM_001031710.2:c.1014A>G	NP_001026880.2:p.Val338=
NM_018846.4:c.870A>G	NP_061334.4:p.Val290=
NR_033328.1:n.1438A>G
XM_006715753.1:c.1053A>G	XP_006715816.1:p.Val351=
XM_006715754.1:c.987A>G	XP_006715817.1:p.Val329=
XM_006715755.1:c.987A>G	XP_006715818.1:p.Val329=
XM_006715756.1:c.909A>G	XP_006715819.1:p.Val303=
XM_006715753.3:c.1053A>G	XP_006715816.1:p.Val351=
XM_006715754.3:c.987A>G	XP_006715817.1:p.Val329=
XM_006715755.3:c.987A>G	XP_006715818.1:p.Val329=
XM_006715756.3:c.909A>G	XP_006715819.1:p.Val303=
XM_017012439.2:c.948A>G	XP_016867928.1:p.Val316=
NM_001031710.3:c.1014A>G MANE Select	NP_001026880.2:p.Val338=
NM_018846.5:c.870A>G	NP_061334.4:p.Val290=
NR_033328.2:n.1387A>G