Canonical Allele Identifier: CA3422299

Gene: KLHL3

Linked Data

• dbSNP Id: rs769771268
• ExAC: 5:136974786 G / T
• gnomAD v2: 5-136974786-G-T
• gnomAD v4: 5-137639097-G-T
• MyVariant Identifiers: chr5:g.136974786G>T (hg19) ; chr5:g.137639097G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639097G>T , CM000667.2:g.137639097G>T	GRCh38
NC_000005.9:g.136974786G>T , CM000667.1:g.136974786G>T	GRCh37
NC_000005.8:g.137002685G>T	NCBI36
NG_032569.1:g.101994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1075C>A MANE Select	ENSP00000312397.4:p.Leu359Met
ENST00000309755.8:c.1075C>A	ENSP00000312397.4:p.Leu359Met
ENST00000502381.1:n.662C>A
ENST00000504208.5:c.*335-10660C>A	ENSP00000423585.1:n.*335-10660C>A
ENST00000505853.1:c.955C>A	ENSP00000426173.1:p.Leu319Met
ENST00000506491.5:c.829C>A	ENSP00000424828.1:p.Leu277Met
ENST00000506873.5:n.700C>A
ENST00000508657.5:c.979C>A	ENSP00000422099.1:p.Leu327Met
NM_001257194.1:c.979C>A	NP_001244123.1:p.Leu327Met
NM_001257195.1:c.829C>A	NP_001244124.1:p.Leu277Met
NM_017415.2:c.1075C>A	NP_059111.2:p.Leu359Met
NM_017415.3:c.1075C>A MANE Select	NP_059111.2:p.Leu359Met
NM_001257195.2:c.829C>A	NP_001244124.1:p.Leu277Met