Canonical Allele Identifier: CA361045690

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964082C>G (hg19) ; chr5:g.137628393C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628393C>G , CM000667.2:g.137628393C>G	GRCh38
NC_000005.9:g.136964082C>G , CM000667.1:g.136964082C>G	GRCh37
NC_000005.8:g.136991981C>G	NCBI36
NG_032569.1:g.112698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1495G>C MANE Select	ENSP00000312397.4:p.Asp499His
ENST00000309755.8:c.1495G>C	ENSP00000312397.4:p.Asp499His
ENST00000447439.6:n.1551G>C
ENST00000504208.5:c.*379G>C	ENSP00000423585.1:n.*379G>C
ENST00000506491.5:c.1249G>C	ENSP00000424828.1:p.Asp417His
ENST00000506873.5:n.1018G>C
ENST00000508657.5:c.1399G>C	ENSP00000422099.1:p.Asp467His
ENST00000509694.1:n.288G>C
NM_001257194.1:c.1399G>C	NP_001244123.1:p.Asp467His
NM_001257195.1:c.1249G>C	NP_001244124.1:p.Asp417His
NM_017415.2:c.1495G>C	NP_059111.2:p.Asp499His
NM_017415.3:c.1495G>C MANE Select	NP_059111.2:p.Asp499His
NM_001257195.2:c.1249G>C	NP_001244124.1:p.Asp417His