Canonical Allele Identifier: CA454140887

Gene: KLHL7

Linked Data

• dbSNP Id: rs1165042429
• gnomAD v2: 7-23205325-C-T
• gnomAD v4: 7-23165706-C-T
• MyVariant Identifiers: chr7:g.23205325C>T (hg19) ; chr7:g.23165706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165706C>T , CM000669.2:g.23165706C>T	GRCh38
NC_000007.13:g.23205325C>T , CM000669.1:g.23205325C>T	GRCh37
NC_000007.12:g.23171850C>T	NCBI36
NG_016983.1:g.64973C>T
NG_016983.2:g.64973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.945C>T MANE Select	ENSP00000343273.4:p.Ser315=
ENST00000339077.9:c.945C>T	ENSP00000343273.4:p.Ser315=
ENST00000409689.5:c.801C>T	ENSP00000386263.1:p.Ser267=
ENST00000521082.5:c.*953C>T	ENSP00000430351.1:n.*953C>T
NM_001031710.2:c.945C>T	NP_001026880.2:p.Ser315=
NM_018846.4:c.801C>T	NP_061334.4:p.Ser267=
NR_033328.1:n.1369C>T
XM_006715753.1:c.984C>T	XP_006715816.1:p.Ser328=
XM_006715754.1:c.918C>T	XP_006715817.1:p.Ser306=
XM_006715755.1:c.918C>T	XP_006715818.1:p.Ser306=
XM_006715756.1:c.840C>T	XP_006715819.1:p.Ser280=
XM_006715753.3:c.984C>T	XP_006715816.1:p.Ser328=
XM_006715754.3:c.918C>T	XP_006715817.1:p.Ser306=
XM_006715755.3:c.918C>T	XP_006715818.1:p.Ser306=
XM_006715756.3:c.840C>T	XP_006715819.1:p.Ser280=
XM_017012439.2:c.879C>T	XP_016867928.1:p.Ser293=
NM_001031710.3:c.945C>T MANE Select	NP_001026880.2:p.Ser315=
NM_018846.5:c.801C>T	NP_061334.4:p.Ser267=
NR_033328.2:n.1318C>T