Canonical Allele Identifier: CA366981625

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205552A>T (hg19) ; chr7:g.23165933A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165933A>T , CM000669.2:g.23165933A>T	GRCh38
NC_000007.13:g.23205552A>T , CM000669.1:g.23205552A>T	GRCh37
NC_000007.12:g.23172077A>T	NCBI36
NG_016983.1:g.65200A>T
NG_016983.2:g.65200A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1172A>T MANE Select	ENSP00000343273.4:p.Glu391Val
ENST00000339077.9:c.1172A>T	ENSP00000343273.4:p.Glu391Val
ENST00000409689.5:c.1028A>T	ENSP00000386263.1:p.Glu343Val
ENST00000469576.1:n.59A>T
ENST00000521082.5:c.*1180A>T	ENSP00000430351.1:n.*1180A>T
NM_001031710.2:c.1172A>T	NP_001026880.2:p.Glu391Val
NM_018846.4:c.1028A>T	NP_061334.4:p.Glu343Val
NR_033328.1:n.1596A>T
XM_006715753.1:c.1211A>T	XP_006715816.1:p.Glu404Val
XM_006715754.1:c.1145A>T	XP_006715817.1:p.Glu382Val
XM_006715755.1:c.1145A>T	XP_006715818.1:p.Glu382Val
XM_006715756.1:c.1067A>T	XP_006715819.1:p.Glu356Val
XM_006715753.3:c.1211A>T	XP_006715816.1:p.Glu404Val
XM_006715754.3:c.1145A>T	XP_006715817.1:p.Glu382Val
XM_006715755.3:c.1145A>T	XP_006715818.1:p.Glu382Val
XM_006715756.3:c.1067A>T	XP_006715819.1:p.Glu356Val
XM_017012439.2:c.1106A>T	XP_016867928.1:p.Glu369Val
NM_001031710.3:c.1172A>T MANE Select	NP_001026880.2:p.Glu391Val
NM_018846.5:c.1028A>T	NP_061334.4:p.Glu343Val
NR_033328.2:n.1545A>T