Canonical Allele Identifier: CA366981651
Gene: KLHL7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23167838A>C , CM000669.2:g.23167838A>C GRCh38
NC_000007.13:g.23207457A>C , CM000669.1:g.23207457A>C GRCh37
NC_000007.12:g.23173982A>C NCBI36
NG_016983.1:g.67105A>C
NG_016983.2:g.67105A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1180A>C MANE Select ENSP00000343273.4:p.Asn394His
ENST00000339077.9:c.1180A>C ENSP00000343273.4:p.Asn394His
ENST00000409689.5:c.1036A>C ENSP00000386263.1:p.Asn346His
ENST00000469576.1:n.67A>C
ENST00000521082.5:c.*1188A>C ENSP00000430351.1:n.*1188A>C
NM_001031710.2:c.1180A>C NP_001026880.2:p.Asn394His
NM_018846.4:c.1036A>C NP_061334.4:p.Asn346His
NR_033328.1:n.1604A>C
XM_006715753.1:c.1219A>C XP_006715816.1:p.Asn407His
XM_006715754.1:c.1153A>C XP_006715817.1:p.Asn385His
XM_006715755.1:c.1153A>C XP_006715818.1:p.Asn385His
XM_006715756.1:c.1075A>C XP_006715819.1:p.Asn359His
XM_006715753.3:c.1219A>C XP_006715816.1:p.Asn407His
XM_006715754.3:c.1153A>C XP_006715817.1:p.Asn385His
XM_006715755.3:c.1153A>C XP_006715818.1:p.Asn385His
XM_006715756.3:c.1075A>C XP_006715819.1:p.Asn359His
XM_017012439.2:c.1114A>C XP_016867928.1:p.Asn372His
NM_001031710.3:c.1180A>C MANE Select NP_001026880.2:p.Asn394His
NM_018846.5:c.1036A>C NP_061334.4:p.Asn346His
NR_033328.2:n.1553A>C