Canonical Allele Identifier: CA2768566566
Gene: KLHL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137628233C>T , CM000667.2:g.137628233C>T GRCh38
NC_000005.9:g.136963922C>T , CM000667.1:g.136963922C>T GRCh37
NC_000005.8:g.136991821C>T NCBI36
NG_032569.1:g.112858G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309755.9:c.1591+64G>A MANE Select ENSP00000312397.4:n.1591+64G>A
ENST00000309755.8:c.1591+64G>A ENSP00000312397.4:n.1591+64G>A
ENST00000447439.6:n.1647+64G>A
ENST00000504208.5:c.*475+64G>A ENSP00000423585.1:n.*475+64G>A
ENST00000506491.5:c.1345+64G>A ENSP00000424828.1:n.1345+64G>A
ENST00000506873.5:n.1114+64G>A
ENST00000508657.5:c.1495+64G>A ENSP00000422099.1:n.1495+64G>A
ENST00000509694.1:n.448G>A
NM_001257194.1:c.1495+64G>A NP_001244123.1:n.1495+64G>A
NM_001257195.1:c.1345+64G>A NP_001244124.1:n.1345+64G>A
NM_017415.2:c.1591+64G>A NP_059111.2:n.1591+64G>A
NM_017415.3:c.1591+64G>A MANE Select NP_059111.2:n.1591+64G>A
NM_001257195.2:c.1345+64G>A NP_001244124.1:n.1345+64G>A