Canonical Allele Identifier: CA155256032

Gene: KLHL7

Linked Data

• dbSNP Id: rs921466515
• gnomAD v2: 7-23205521-G-A
• gnomAD v4: 7-23165902-G-A
• MyVariant Identifiers: chr7:g.23205521G>A (hg19) ; chr7:g.23165902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165902G>A , CM000669.2:g.23165902G>A	GRCh38
NC_000007.13:g.23205521G>A , CM000669.1:g.23205521G>A	GRCh37
NC_000007.12:g.23172046G>A	NCBI36
NG_016983.1:g.65169G>A
NG_016983.2:g.65169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1141G>A MANE Select	ENSP00000343273.4:p.Glu381Lys
ENST00000339077.9:c.1141G>A	ENSP00000343273.4:p.Glu381Lys
ENST00000409689.5:c.997G>A	ENSP00000386263.1:p.Glu333Lys
ENST00000469576.1:n.28G>A
ENST00000521082.5:c.*1149G>A	ENSP00000430351.1:n.*1149G>A
NM_001031710.2:c.1141G>A	NP_001026880.2:p.Glu381Lys
NM_018846.4:c.997G>A	NP_061334.4:p.Glu333Lys
NR_033328.1:n.1565G>A
XM_006715753.1:c.1180G>A	XP_006715816.1:p.Glu394Lys
XM_006715754.1:c.1114G>A	XP_006715817.1:p.Glu372Lys
XM_006715755.1:c.1114G>A	XP_006715818.1:p.Glu372Lys
XM_006715756.1:c.1036G>A	XP_006715819.1:p.Glu346Lys
XM_006715753.3:c.1180G>A	XP_006715816.1:p.Glu394Lys
XM_006715754.3:c.1114G>A	XP_006715817.1:p.Glu372Lys
XM_006715755.3:c.1114G>A	XP_006715818.1:p.Glu372Lys
XM_006715756.3:c.1036G>A	XP_006715819.1:p.Glu346Lys
XM_017012439.2:c.1075G>A	XP_016867928.1:p.Glu359Lys
NM_001031710.3:c.1141G>A MANE Select	NP_001026880.2:p.Glu381Lys
NM_018846.5:c.997G>A	NP_061334.4:p.Glu333Lys
NR_033328.2:n.1514G>A