Canonical Allele Identifier: CA366981466

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205477T>A (hg19) ; chr7:g.23165858T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165858T>A , CM000669.2:g.23165858T>A	GRCh38
NC_000007.13:g.23205477T>A , CM000669.1:g.23205477T>A	GRCh37
NC_000007.12:g.23172002T>A	NCBI36
NG_016983.1:g.65125T>A
NG_016983.2:g.65125T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1097T>A MANE Select	ENSP00000343273.4:p.Leu366Gln
ENST00000339077.9:c.1097T>A	ENSP00000343273.4:p.Leu366Gln
ENST00000409689.5:c.953T>A	ENSP00000386263.1:p.Leu318Gln
ENST00000521082.5:c.*1105T>A	ENSP00000430351.1:n.*1105T>A
NM_001031710.2:c.1097T>A	NP_001026880.2:p.Leu366Gln
NM_018846.4:c.953T>A	NP_061334.4:p.Leu318Gln
NR_033328.1:n.1521T>A
XM_006715753.1:c.1136T>A	XP_006715816.1:p.Leu379Gln
XM_006715754.1:c.1070T>A	XP_006715817.1:p.Leu357Gln
XM_006715755.1:c.1070T>A	XP_006715818.1:p.Leu357Gln
XM_006715756.1:c.992T>A	XP_006715819.1:p.Leu331Gln
XM_006715753.3:c.1136T>A	XP_006715816.1:p.Leu379Gln
XM_006715754.3:c.1070T>A	XP_006715817.1:p.Leu357Gln
XM_006715755.3:c.1070T>A	XP_006715818.1:p.Leu357Gln
XM_006715756.3:c.992T>A	XP_006715819.1:p.Leu331Gln
XM_017012439.2:c.1031T>A	XP_016867928.1:p.Leu344Gln
NM_001031710.3:c.1097T>A MANE Select	NP_001026880.2:p.Leu366Gln
NM_018846.5:c.953T>A	NP_061334.4:p.Leu318Gln
NR_033328.2:n.1470T>A