Canonical Allele Identifier: CA366981136
Gene: KLHL7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165718C>G , CM000669.2:g.23165718C>G GRCh38
NC_000007.13:g.23205337C>G , CM000669.1:g.23205337C>G GRCh37
NC_000007.12:g.23171862C>G NCBI36
NG_016983.1:g.64985C>G
NG_016983.2:g.64985C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.957C>G MANE Select ENSP00000343273.4:p.Ile319Met
ENST00000339077.9:c.957C>G ENSP00000343273.4:p.Ile319Met
ENST00000409689.5:c.813C>G ENSP00000386263.1:p.Ile271Met
ENST00000521082.5:c.*965C>G ENSP00000430351.1:n.*965C>G
NM_001031710.2:c.957C>G NP_001026880.2:p.Ile319Met
NM_018846.4:c.813C>G NP_061334.4:p.Ile271Met
NR_033328.1:n.1381C>G
XM_006715753.1:c.996C>G XP_006715816.1:p.Ile332Met
XM_006715754.1:c.930C>G XP_006715817.1:p.Ile310Met
XM_006715755.1:c.930C>G XP_006715818.1:p.Ile310Met
XM_006715756.1:c.852C>G XP_006715819.1:p.Ile284Met
XM_006715753.3:c.996C>G XP_006715816.1:p.Ile332Met
XM_006715754.3:c.930C>G XP_006715817.1:p.Ile310Met
XM_006715755.3:c.930C>G XP_006715818.1:p.Ile310Met
XM_006715756.3:c.852C>G XP_006715819.1:p.Ile284Met
XM_017012439.2:c.891C>G XP_016867928.1:p.Ile297Met
NM_001031710.3:c.957C>G MANE Select NP_001026880.2:p.Ile319Met
NM_018846.5:c.813C>G NP_061334.4:p.Ile271Met
NR_033328.2:n.1330C>G