Canonical Allele Identifier: CA454140910
Gene: KLHL7 HGNC NCBI

Linked Data

gnomAD v4: 7-23165739-A-G
MyVariant Identifiers: chr7:g.23205358A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165739A>G , CM000669.2:g.23165739A>G GRCh38
NC_000007.13:g.23205358A>G , CM000669.1:g.23205358A>G GRCh37
NC_000007.12:g.23171883A>G NCBI36
NG_016983.1:g.65006A>G
NG_016983.2:g.65006A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.978A>G MANE Select ENSP00000343273.4:p.Arg326=
ENST00000339077.9:c.978A>G ENSP00000343273.4:p.Arg326=
ENST00000409689.5:c.834A>G ENSP00000386263.1:p.Arg278=
ENST00000521082.5:c.*986A>G ENSP00000430351.1:n.*986A>G
NM_001031710.2:c.978A>G NP_001026880.2:p.Arg326=
NM_018846.4:c.834A>G NP_061334.4:p.Arg278=
NR_033328.1:n.1402A>G
XM_006715753.1:c.1017A>G XP_006715816.1:p.Arg339=
XM_006715754.1:c.951A>G XP_006715817.1:p.Arg317=
XM_006715755.1:c.951A>G XP_006715818.1:p.Arg317=
XM_006715756.1:c.873A>G XP_006715819.1:p.Arg291=
XM_006715753.3:c.1017A>G XP_006715816.1:p.Arg339=
XM_006715754.3:c.951A>G XP_006715817.1:p.Arg317=
XM_006715755.3:c.951A>G XP_006715818.1:p.Arg317=
XM_006715756.3:c.873A>G XP_006715819.1:p.Arg291=
XM_017012439.2:c.912A>G XP_016867928.1:p.Arg304=
NM_001031710.3:c.978A>G MANE Select NP_001026880.2:p.Arg326=
NM_018846.5:c.834A>G NP_061334.4:p.Arg278=
NR_033328.2:n.1351A>G