Canonical Allele Identifier: CA454140926
Gene: KLHL7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.23205376G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165757G>T , CM000669.2:g.23165757G>T GRCh38
NC_000007.13:g.23205376G>T , CM000669.1:g.23205376G>T GRCh37
NC_000007.12:g.23171901G>T NCBI36
NG_016983.1:g.65024G>T
NG_016983.2:g.65024G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.996G>T MANE Select ENSP00000343273.4:p.Val332=
ENST00000339077.9:c.996G>T ENSP00000343273.4:p.Val332=
ENST00000409689.5:c.852G>T ENSP00000386263.1:p.Val284=
ENST00000521082.5:c.*1004G>T ENSP00000430351.1:n.*1004G>T
NM_001031710.2:c.996G>T NP_001026880.2:p.Val332=
NM_018846.4:c.852G>T NP_061334.4:p.Val284=
NR_033328.1:n.1420G>T
XM_006715753.1:c.1035G>T XP_006715816.1:p.Val345=
XM_006715754.1:c.969G>T XP_006715817.1:p.Val323=
XM_006715755.1:c.969G>T XP_006715818.1:p.Val323=
XM_006715756.1:c.891G>T XP_006715819.1:p.Val297=
XM_006715753.3:c.1035G>T XP_006715816.1:p.Val345=
XM_006715754.3:c.969G>T XP_006715817.1:p.Val323=
XM_006715755.3:c.969G>T XP_006715818.1:p.Val323=
XM_006715756.3:c.891G>T XP_006715819.1:p.Val297=
XM_017012439.2:c.930G>T XP_016867928.1:p.Val310=
NM_001031710.3:c.996G>T MANE Select NP_001026880.2:p.Val332=
NM_018846.5:c.852G>T NP_061334.4:p.Val284=
NR_033328.2:n.1369G>T