Canonical Allele Identifier: CA454141312
Gene: KLHL7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.23205517T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165898T>G , CM000669.2:g.23165898T>G GRCh38
NC_000007.13:g.23205517T>G , CM000669.1:g.23205517T>G GRCh37
NC_000007.12:g.23172042T>G NCBI36
NG_016983.1:g.65165T>G
NG_016983.2:g.65165T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1137T>G MANE Select ENSP00000343273.4:p.Ala379=
ENST00000339077.9:c.1137T>G ENSP00000343273.4:p.Ala379=
ENST00000409689.5:c.993T>G ENSP00000386263.1:p.Ala331=
ENST00000469576.1:n.24T>G
ENST00000521082.5:c.*1145T>G ENSP00000430351.1:n.*1145T>G
NM_001031710.2:c.1137T>G NP_001026880.2:p.Ala379=
NM_018846.4:c.993T>G NP_061334.4:p.Ala331=
NR_033328.1:n.1561T>G
XM_006715753.1:c.1176T>G XP_006715816.1:p.Ala392=
XM_006715754.1:c.1110T>G XP_006715817.1:p.Ala370=
XM_006715755.1:c.1110T>G XP_006715818.1:p.Ala370=
XM_006715756.1:c.1032T>G XP_006715819.1:p.Ala344=
XM_006715753.3:c.1176T>G XP_006715816.1:p.Ala392=
XM_006715754.3:c.1110T>G XP_006715817.1:p.Ala370=
XM_006715755.3:c.1110T>G XP_006715818.1:p.Ala370=
XM_006715756.3:c.1032T>G XP_006715819.1:p.Ala344=
XM_017012439.2:c.1071T>G XP_016867928.1:p.Ala357=
NM_001031710.3:c.1137T>G MANE Select NP_001026880.2:p.Ala379=
NM_018846.5:c.993T>G NP_061334.4:p.Ala331=
NR_033328.2:n.1510T>G