Canonical Allele Identifier: CA366981092

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165700-T-A
• MyVariant Identifiers: chr7:g.23205319T>A (hg19) ; chr7:g.23165700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165700T>A , CM000669.2:g.23165700T>A	GRCh38
NC_000007.13:g.23205319T>A , CM000669.1:g.23205319T>A	GRCh37
NC_000007.12:g.23171844T>A	NCBI36
NG_016983.1:g.64967T>A
NG_016983.2:g.64967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.939T>A MANE Select	ENSP00000343273.4:p.Asp313Glu
ENST00000339077.9:c.939T>A	ENSP00000343273.4:p.Asp313Glu
ENST00000409689.5:c.795T>A	ENSP00000386263.1:p.Asp265Glu
ENST00000521082.5:c.*947T>A	ENSP00000430351.1:n.*947T>A
NM_001031710.2:c.939T>A	NP_001026880.2:p.Asp313Glu
NM_018846.4:c.795T>A	NP_061334.4:p.Asp265Glu
NR_033328.1:n.1363T>A
XM_006715753.1:c.978T>A	XP_006715816.1:p.Asp326Glu
XM_006715754.1:c.912T>A	XP_006715817.1:p.Asp304Glu
XM_006715755.1:c.912T>A	XP_006715818.1:p.Asp304Glu
XM_006715756.1:c.834T>A	XP_006715819.1:p.Asp278Glu
XM_006715753.3:c.978T>A	XP_006715816.1:p.Asp326Glu
XM_006715754.3:c.912T>A	XP_006715817.1:p.Asp304Glu
XM_006715755.3:c.912T>A	XP_006715818.1:p.Asp304Glu
XM_006715756.3:c.834T>A	XP_006715819.1:p.Asp278Glu
XM_017012439.2:c.873T>A	XP_016867928.1:p.Asp291Glu
NM_001031710.3:c.939T>A MANE Select	NP_001026880.2:p.Asp313Glu
NM_018846.5:c.795T>A	NP_061334.4:p.Asp265Glu
NR_033328.2:n.1312T>A