Canonical Allele Identifier: CA4186475
Community Standard Title: NM_001031710.3(KLHL7):c.738G>A (p.Thr246=)
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23143970G>A , CM000669.2:g.23143970G>A GRCh38
NC_000007.13:g.23183589G>A , CM000669.1:g.23183589G>A GRCh37
NC_000007.12:g.23150114G>A NCBI36
NG_016983.1:g.43237G>A
NG_016983.2:g.43237G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001031710.3:c.738G>A MANE Select NP_001026880.2:p.Thr246=
ENST00000339077.10:c.738G>A MANE Select ENSP00000343273.4:p.Thr246=
NM_001031710.2:c.738G>A NP_001026880.2:p.Thr246=
NM_018846.4:c.594G>A NP_061334.4:p.Thr198=
NM_018846.5:c.594G>A NP_061334.4:p.Thr198=
NR_033328.1:n.1162G>A
NR_033328.2:n.1111G>A
ENST00000339077.9:c.738G>A ENSP00000343273.4:p.Thr246=
ENST00000409689.5:c.594G>A ENSP00000386263.1:p.Thr198=
ENST00000414163.1:c.42G>A ENSP00000404181.1:p.Thr14=
ENST00000521082.5:c.*746G>A ENSP00000430351.1:n.*746G>A
XM_006715753.1:c.777G>A XP_006715816.1:p.Thr259=
XM_006715753.3:c.777G>A XP_006715816.1:p.Thr259=
XM_006715754.1:c.711G>A XP_006715817.1:p.Thr237=
XM_006715754.3:c.711G>A XP_006715817.1:p.Thr237=
XM_006715755.1:c.711G>A XP_006715818.1:p.Thr237=
XM_006715755.3:c.711G>A XP_006715818.1:p.Thr237=
XM_006715756.1:c.633G>A XP_006715819.1:p.Thr211=
XM_006715756.3:c.633G>A XP_006715819.1:p.Thr211=
XM_006715757.2:c.777G>A XP_006715820.1:p.Thr259=
XM_006715757.4:c.777G>A XP_006715820.1:p.Thr259=
XM_017012439.2:c.672G>A XP_016867928.1:p.Thr224=
XM_017012440.2:c.738G>A XP_016867929.1:p.Thr246=
XM_017012441.2:c.672G>A XP_016867930.1:p.Thr224=