Canonical Allele Identifier: CA366981104

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165705-G-A
• MyVariant Identifiers: chr7:g.23205324G>A (hg19) ; chr7:g.23165705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165705G>A , CM000669.2:g.23165705G>A	GRCh38
NC_000007.13:g.23205324G>A , CM000669.1:g.23205324G>A	GRCh37
NC_000007.12:g.23171849G>A	NCBI36
NG_016983.1:g.64972G>A
NG_016983.2:g.64972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.944G>A MANE Select	ENSP00000343273.4:p.Ser315Asn
ENST00000339077.9:c.944G>A	ENSP00000343273.4:p.Ser315Asn
ENST00000409689.5:c.800G>A	ENSP00000386263.1:p.Ser267Asn
ENST00000521082.5:c.*952G>A	ENSP00000430351.1:n.*952G>A
NM_001031710.2:c.944G>A	NP_001026880.2:p.Ser315Asn
NM_018846.4:c.800G>A	NP_061334.4:p.Ser267Asn
NR_033328.1:n.1368G>A
XM_006715753.1:c.983G>A	XP_006715816.1:p.Ser328Asn
XM_006715754.1:c.917G>A	XP_006715817.1:p.Ser306Asn
XM_006715755.1:c.917G>A	XP_006715818.1:p.Ser306Asn
XM_006715756.1:c.839G>A	XP_006715819.1:p.Ser280Asn
XM_006715753.3:c.983G>A	XP_006715816.1:p.Ser328Asn
XM_006715754.3:c.917G>A	XP_006715817.1:p.Ser306Asn
XM_006715755.3:c.917G>A	XP_006715818.1:p.Ser306Asn
XM_006715756.3:c.839G>A	XP_006715819.1:p.Ser280Asn
XM_017012439.2:c.878G>A	XP_016867928.1:p.Ser293Asn
NM_001031710.3:c.944G>A MANE Select	NP_001026880.2:p.Ser315Asn
NM_018846.5:c.800G>A	NP_061334.4:p.Ser267Asn
NR_033328.2:n.1317G>A