Canonical Allele Identifier: CA454140894
Gene: KLHL7 HGNC NCBI

Linked Data

gnomAD v4: 7-23165721-C-T
MyVariant Identifiers: chr7:g.23205340C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165721C>T , CM000669.2:g.23165721C>T GRCh38
NC_000007.13:g.23205340C>T , CM000669.1:g.23205340C>T GRCh37
NC_000007.12:g.23171865C>T NCBI36
NG_016983.1:g.64988C>T
NG_016983.2:g.64988C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.960C>T MANE Select ENSP00000343273.4:p.Arg320=
ENST00000339077.9:c.960C>T ENSP00000343273.4:p.Arg320=
ENST00000409689.5:c.816C>T ENSP00000386263.1:p.Arg272=
ENST00000521082.5:c.*968C>T ENSP00000430351.1:n.*968C>T
NM_001031710.2:c.960C>T NP_001026880.2:p.Arg320=
NM_018846.4:c.816C>T NP_061334.4:p.Arg272=
NR_033328.1:n.1384C>T
XM_006715753.1:c.999C>T XP_006715816.1:p.Arg333=
XM_006715754.1:c.933C>T XP_006715817.1:p.Arg311=
XM_006715755.1:c.933C>T XP_006715818.1:p.Arg311=
XM_006715756.1:c.855C>T XP_006715819.1:p.Arg285=
XM_006715753.3:c.999C>T XP_006715816.1:p.Arg333=
XM_006715754.3:c.933C>T XP_006715817.1:p.Arg311=
XM_006715755.3:c.933C>T XP_006715818.1:p.Arg311=
XM_006715756.3:c.855C>T XP_006715819.1:p.Arg285=
XM_017012439.2:c.894C>T XP_016867928.1:p.Arg298=
NM_001031710.3:c.960C>T MANE Select NP_001026880.2:p.Arg320=
NM_018846.5:c.816C>T NP_061334.4:p.Arg272=
NR_033328.2:n.1333C>T