Canonical Allele Identifier: CA4186543
Community Standard Title: NM_001031710.3(KLHL7):c.1092G>A (p.Ser364=)
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165853G>A , CM000669.2:g.23165853G>A GRCh38
NC_000007.13:g.23205472G>A , CM000669.1:g.23205472G>A GRCh37
NC_000007.12:g.23171997G>A NCBI36
NG_016983.1:g.65120G>A
NG_016983.2:g.65120G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001031710.3:c.1092G>A MANE Select NP_001026880.2:p.Ser364=
ENST00000339077.10:c.1092G>A MANE Select ENSP00000343273.4:p.Ser364=
NM_001031710.2:c.1092G>A NP_001026880.2:p.Ser364=
NM_018846.4:c.948G>A NP_061334.4:p.Ser316=
NM_018846.5:c.948G>A NP_061334.4:p.Ser316=
NR_033328.1:n.1516G>A
NR_033328.2:n.1465G>A
ENST00000339077.9:c.1092G>A ENSP00000343273.4:p.Ser364=
ENST00000409689.5:c.948G>A ENSP00000386263.1:p.Ser316=
ENST00000521082.5:c.*1100G>A ENSP00000430351.1:n.*1100G>A
XM_006715753.1:c.1131G>A XP_006715816.1:p.Ser377=
XM_006715753.3:c.1131G>A XP_006715816.1:p.Ser377=
XM_006715754.1:c.1065G>A XP_006715817.1:p.Ser355=
XM_006715754.3:c.1065G>A XP_006715817.1:p.Ser355=
XM_006715755.1:c.1065G>A XP_006715818.1:p.Ser355=
XM_006715755.3:c.1065G>A XP_006715818.1:p.Ser355=
XM_006715756.1:c.987G>A XP_006715819.1:p.Ser329=
XM_006715756.3:c.987G>A XP_006715819.1:p.Ser329=
XM_017012439.2:c.1026G>A XP_016867928.1:p.Ser342=