Canonical Allele Identifier: CA650309274

Gene: KLHL3

Linked Data

• dbSNP Id: rs1482222018
• COSMIC: COSN2072288
• MyVariant Identifiers: chr5:g.136975342C>T (hg19) ; chr5:g.137639653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639653C>T , CM000667.2:g.137639653C>T	GRCh38
NC_000005.9:g.136975342C>T , CM000667.1:g.136975342C>T	GRCh37
NC_000005.8:g.137003241C>T	NCBI36
NG_032569.1:g.101438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1021+207G>A MANE Select	ENSP00000312397.4:n.1021+207G>A
ENST00000309755.8:c.1021+207G>A	ENSP00000312397.4:n.1021+207G>A
ENST00000502381.1:n.608+207G>A
ENST00000504208.5:c.*335-11216G>A	ENSP00000423585.1:n.*335-11216G>A
ENST00000505853.1:c.901+207G>A	ENSP00000426173.1:n.901+207G>A
ENST00000506491.5:c.775+207G>A	ENSP00000424828.1:n.775+207G>A
ENST00000506873.5:n.646+207G>A
ENST00000508657.5:c.925+207G>A	ENSP00000422099.1:n.925+207G>A
NM_001257194.1:c.925+207G>A	NP_001244123.1:n.925+207G>A
NM_001257195.1:c.775+207G>A	NP_001244124.1:n.775+207G>A
NM_017415.2:c.1021+207G>A	NP_059111.2:n.1021+207G>A
NM_017415.3:c.1021+207G>A MANE Select	NP_059111.2:n.1021+207G>A
NM_001257195.2:c.775+207G>A	NP_001244124.1:n.775+207G>A