Canonical Allele Identifier: CA366981595

Gene: KLHL7

Linked Data

• dbSNP Id: rs1784992530
• MyVariant Identifiers: chr7:g.23205537C>G (hg19) ; chr7:g.23165918C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165918C>G , CM000669.2:g.23165918C>G	GRCh38
NC_000007.13:g.23205537C>G , CM000669.1:g.23205537C>G	GRCh37
NC_000007.12:g.23172062C>G	NCBI36
NG_016983.1:g.65185C>G
NG_016983.2:g.65185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1157C>G MANE Select	ENSP00000343273.4:p.Thr386Arg
ENST00000339077.9:c.1157C>G	ENSP00000343273.4:p.Thr386Arg
ENST00000409689.5:c.1013C>G	ENSP00000386263.1:p.Thr338Arg
ENST00000469576.1:n.44C>G
ENST00000521082.5:c.*1165C>G	ENSP00000430351.1:n.*1165C>G
NM_001031710.2:c.1157C>G	NP_001026880.2:p.Thr386Arg
NM_018846.4:c.1013C>G	NP_061334.4:p.Thr338Arg
NR_033328.1:n.1581C>G
XM_006715753.1:c.1196C>G	XP_006715816.1:p.Thr399Arg
XM_006715754.1:c.1130C>G	XP_006715817.1:p.Thr377Arg
XM_006715755.1:c.1130C>G	XP_006715818.1:p.Thr377Arg
XM_006715756.1:c.1052C>G	XP_006715819.1:p.Thr351Arg
XM_006715753.3:c.1196C>G	XP_006715816.1:p.Thr399Arg
XM_006715754.3:c.1130C>G	XP_006715817.1:p.Thr377Arg
XM_006715755.3:c.1130C>G	XP_006715818.1:p.Thr377Arg
XM_006715756.3:c.1052C>G	XP_006715819.1:p.Thr351Arg
XM_017012439.2:c.1091C>G	XP_016867928.1:p.Thr364Arg
NM_001031710.3:c.1157C>G MANE Select	NP_001026880.2:p.Thr386Arg
NM_018846.5:c.1013C>G	NP_061334.4:p.Thr338Arg
NR_033328.2:n.1530C>G