Canonical Allele Identifier: CA2581502736
Gene: KLHL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639190C>G , CM000667.2:g.137639190C>G GRCh38
NC_000005.9:g.136974879C>G , CM000667.1:g.136974879C>G GRCh37
NC_000005.8:g.137002778C>G NCBI36
NG_032569.1:g.101901G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1022-40G>C MANE Select ENSP00000312397.4:n.1022-40G>C
ENST00000309755.8:c.1022-40G>C ENSP00000312397.4:n.1022-40G>C
ENST00000502381.1:n.609-40G>C
ENST00000504208.5:c.*335-10753G>C ENSP00000423585.1:n.*335-10753G>C
ENST00000505853.1:c.902-40G>C ENSP00000426173.1:n.902-40G>C
ENST00000506491.5:c.776-40G>C ENSP00000424828.1:n.776-40G>C
ENST00000506873.5:n.647-40G>C
ENST00000508657.5:c.926-40G>C ENSP00000422099.1:n.926-40G>C
NM_001257194.1:c.926-40G>C NP_001244123.1:n.926-40G>C
NM_001257195.1:c.776-40G>C NP_001244124.1:n.776-40G>C
NM_017415.2:c.1022-40G>C NP_059111.2:n.1022-40G>C
NM_017415.3:c.1022-40G>C MANE Select NP_059111.2:n.1022-40G>C
NM_001257195.2:c.776-40G>C NP_001244124.1:n.776-40G>C