Canonical Allele Identifier: CA366981206

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205368G>A (hg19) ; chr7:g.23165749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165749G>A , CM000669.2:g.23165749G>A	GRCh38
NC_000007.13:g.23205368G>A , CM000669.1:g.23205368G>A	GRCh37
NC_000007.12:g.23171893G>A	NCBI36
NG_016983.1:g.65016G>A
NG_016983.2:g.65016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.988G>A MANE Select	ENSP00000343273.4:p.Ala330Thr
ENST00000339077.9:c.988G>A	ENSP00000343273.4:p.Ala330Thr
ENST00000409689.5:c.844G>A	ENSP00000386263.1:p.Ala282Thr
ENST00000521082.5:c.*996G>A	ENSP00000430351.1:n.*996G>A
NM_001031710.2:c.988G>A	NP_001026880.2:p.Ala330Thr
NM_018846.4:c.844G>A	NP_061334.4:p.Ala282Thr
NR_033328.1:n.1412G>A
XM_006715753.1:c.1027G>A	XP_006715816.1:p.Ala343Thr
XM_006715754.1:c.961G>A	XP_006715817.1:p.Ala321Thr
XM_006715755.1:c.961G>A	XP_006715818.1:p.Ala321Thr
XM_006715756.1:c.883G>A	XP_006715819.1:p.Ala295Thr
XM_006715753.3:c.1027G>A	XP_006715816.1:p.Ala343Thr
XM_006715754.3:c.961G>A	XP_006715817.1:p.Ala321Thr
XM_006715755.3:c.961G>A	XP_006715818.1:p.Ala321Thr
XM_006715756.3:c.883G>A	XP_006715819.1:p.Ala295Thr
XM_017012439.2:c.922G>A	XP_016867928.1:p.Ala308Thr
NM_001031710.3:c.988G>A MANE Select	NP_001026880.2:p.Ala330Thr
NM_018846.5:c.844G>A	NP_061334.4:p.Ala282Thr
NR_033328.2:n.1361G>A