Canonical Allele Identifier: CA454141193
Gene: KLHL7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.23205478G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165859G>A , CM000669.2:g.23165859G>A GRCh38
NC_000007.13:g.23205478G>A , CM000669.1:g.23205478G>A GRCh37
NC_000007.12:g.23172003G>A NCBI36
NG_016983.1:g.65126G>A
NG_016983.2:g.65126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1098G>A MANE Select ENSP00000343273.4:p.Leu366=
ENST00000339077.9:c.1098G>A ENSP00000343273.4:p.Leu366=
ENST00000409689.5:c.954G>A ENSP00000386263.1:p.Leu318=
ENST00000521082.5:c.*1106G>A ENSP00000430351.1:n.*1106G>A
NM_001031710.2:c.1098G>A NP_001026880.2:p.Leu366=
NM_018846.4:c.954G>A NP_061334.4:p.Leu318=
NR_033328.1:n.1522G>A
XM_006715753.1:c.1137G>A XP_006715816.1:p.Leu379=
XM_006715754.1:c.1071G>A XP_006715817.1:p.Leu357=
XM_006715755.1:c.1071G>A XP_006715818.1:p.Leu357=
XM_006715756.1:c.993G>A XP_006715819.1:p.Leu331=
XM_006715753.3:c.1137G>A XP_006715816.1:p.Leu379=
XM_006715754.3:c.1071G>A XP_006715817.1:p.Leu357=
XM_006715755.3:c.1071G>A XP_006715818.1:p.Leu357=
XM_006715756.3:c.993G>A XP_006715819.1:p.Leu331=
XM_017012439.2:c.1032G>A XP_016867928.1:p.Leu344=
NM_001031710.3:c.1098G>A MANE Select NP_001026880.2:p.Leu366=
NM_018846.5:c.954G>A NP_061334.4:p.Leu318=
NR_033328.2:n.1471G>A