Canonical Allele Identifier: CA366981501

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205495G>T (hg19) ; chr7:g.23165876G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165876G>T , CM000669.2:g.23165876G>T	GRCh38
NC_000007.13:g.23205495G>T , CM000669.1:g.23205495G>T	GRCh37
NC_000007.12:g.23172020G>T	NCBI36
NG_016983.1:g.65143G>T
NG_016983.2:g.65143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1115G>T MANE Select	ENSP00000343273.4:p.Arg372Leu
ENST00000339077.9:c.1115G>T	ENSP00000343273.4:p.Arg372Leu
ENST00000409689.5:c.971G>T	ENSP00000386263.1:p.Arg324Leu
ENST00000469576.1:n.2G>T
ENST00000521082.5:c.*1123G>T	ENSP00000430351.1:n.*1123G>T
NM_001031710.2:c.1115G>T	NP_001026880.2:p.Arg372Leu
NM_018846.4:c.971G>T	NP_061334.4:p.Arg324Leu
NR_033328.1:n.1539G>T
XM_006715753.1:c.1154G>T	XP_006715816.1:p.Arg385Leu
XM_006715754.1:c.1088G>T	XP_006715817.1:p.Arg363Leu
XM_006715755.1:c.1088G>T	XP_006715818.1:p.Arg363Leu
XM_006715756.1:c.1010G>T	XP_006715819.1:p.Arg337Leu
XM_006715753.3:c.1154G>T	XP_006715816.1:p.Arg385Leu
XM_006715754.3:c.1088G>T	XP_006715817.1:p.Arg363Leu
XM_006715755.3:c.1088G>T	XP_006715818.1:p.Arg363Leu
XM_006715756.3:c.1010G>T	XP_006715819.1:p.Arg337Leu
XM_017012439.2:c.1049G>T	XP_016867928.1:p.Arg350Leu
NM_001031710.3:c.1115G>T MANE Select	NP_001026880.2:p.Arg372Leu
NM_018846.5:c.971G>T	NP_061334.4:p.Arg324Leu
NR_033328.2:n.1488G>T