Canonical Allele Identifier: CA454141363
Gene: KLHL7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.23205532T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165913T>A , CM000669.2:g.23165913T>A GRCh38
NC_000007.13:g.23205532T>A , CM000669.1:g.23205532T>A GRCh37
NC_000007.12:g.23172057T>A NCBI36
NG_016983.1:g.65180T>A
NG_016983.2:g.65180T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1152T>A MANE Select ENSP00000343273.4:p.Ile384=
ENST00000339077.9:c.1152T>A ENSP00000343273.4:p.Ile384=
ENST00000409689.5:c.1008T>A ENSP00000386263.1:p.Ile336=
ENST00000469576.1:n.39T>A
ENST00000521082.5:c.*1160T>A ENSP00000430351.1:n.*1160T>A
NM_001031710.2:c.1152T>A NP_001026880.2:p.Ile384=
NM_018846.4:c.1008T>A NP_061334.4:p.Ile336=
NR_033328.1:n.1576T>A
XM_006715753.1:c.1191T>A XP_006715816.1:p.Ile397=
XM_006715754.1:c.1125T>A XP_006715817.1:p.Ile375=
XM_006715755.1:c.1125T>A XP_006715818.1:p.Ile375=
XM_006715756.1:c.1047T>A XP_006715819.1:p.Ile349=
XM_006715753.3:c.1191T>A XP_006715816.1:p.Ile397=
XM_006715754.3:c.1125T>A XP_006715817.1:p.Ile375=
XM_006715755.3:c.1125T>A XP_006715818.1:p.Ile375=
XM_006715756.3:c.1047T>A XP_006715819.1:p.Ile349=
XM_017012439.2:c.1086T>A XP_016867928.1:p.Ile362=
NM_001031710.3:c.1152T>A MANE Select NP_001026880.2:p.Ile384=
NM_018846.5:c.1008T>A NP_061334.4:p.Ile336=
NR_033328.2:n.1525T>A