Canonical Allele Identifier: CA361048004

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639032-C-T
• COSMIC: COSM5737337
• MyVariant Identifiers: chr5:g.136974721C>T (hg19) ; chr5:g.137639032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639032C>T , CM000667.2:g.137639032C>T	GRCh38
NC_000005.9:g.136974721C>T , CM000667.1:g.136974721C>T	GRCh37
NC_000005.8:g.137002620C>T	NCBI36
NG_032569.1:g.102059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1140G>A MANE Select	ENSP00000312397.4:p.Met380Ile
ENST00000309755.8:c.1140G>A	ENSP00000312397.4:p.Met380Ile
ENST00000502381.1:n.727G>A
ENST00000504208.5:c.*335-10595G>A	ENSP00000423585.1:n.*335-10595G>A
ENST00000505853.1:c.1020G>A	ENSP00000426173.1:p.Met340Ile
ENST00000506491.5:c.894G>A	ENSP00000424828.1:p.Met298Ile
ENST00000506873.5:n.765G>A
ENST00000508657.5:c.1044G>A	ENSP00000422099.1:p.Met348Ile
NM_001257194.1:c.1044G>A	NP_001244123.1:p.Met348Ile
NM_001257195.1:c.894G>A	NP_001244124.1:p.Met298Ile
NM_017415.2:c.1140G>A	NP_059111.2:p.Met380Ile
NM_017415.3:c.1140G>A MANE Select	NP_059111.2:p.Met380Ile
NM_001257195.2:c.894G>A	NP_001244124.1:p.Met298Ile