Canonical Allele Identifier: CA366981552

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205518G>A (hg19) ; chr7:g.23165899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165899G>A , CM000669.2:g.23165899G>A	GRCh38
NC_000007.13:g.23205518G>A , CM000669.1:g.23205518G>A	GRCh37
NC_000007.12:g.23172043G>A	NCBI36
NG_016983.1:g.65166G>A
NG_016983.2:g.65166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1138G>A MANE Select	ENSP00000343273.4:p.Ala380Thr
ENST00000339077.9:c.1138G>A	ENSP00000343273.4:p.Ala380Thr
ENST00000409689.5:c.994G>A	ENSP00000386263.1:p.Ala332Thr
ENST00000469576.1:n.25G>A
ENST00000521082.5:c.*1146G>A	ENSP00000430351.1:n.*1146G>A
NM_001031710.2:c.1138G>A	NP_001026880.2:p.Ala380Thr
NM_018846.4:c.994G>A	NP_061334.4:p.Ala332Thr
NR_033328.1:n.1562G>A
XM_006715753.1:c.1177G>A	XP_006715816.1:p.Ala393Thr
XM_006715754.1:c.1111G>A	XP_006715817.1:p.Ala371Thr
XM_006715755.1:c.1111G>A	XP_006715818.1:p.Ala371Thr
XM_006715756.1:c.1033G>A	XP_006715819.1:p.Ala345Thr
XM_006715753.3:c.1177G>A	XP_006715816.1:p.Ala393Thr
XM_006715754.3:c.1111G>A	XP_006715817.1:p.Ala371Thr
XM_006715755.3:c.1111G>A	XP_006715818.1:p.Ala371Thr
XM_006715756.3:c.1033G>A	XP_006715819.1:p.Ala345Thr
XM_017012439.2:c.1072G>A	XP_016867928.1:p.Ala358Thr
NM_001031710.3:c.1138G>A MANE Select	NP_001026880.2:p.Ala380Thr
NM_018846.5:c.994G>A	NP_061334.4:p.Ala332Thr
NR_033328.2:n.1511G>A