Canonical Allele Identifier: CA446556446

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628430-T-C
• MyVariant Identifiers: chr5:g.136964119T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628430T>C , CM000667.2:g.137628430T>C	GRCh38
NC_000005.9:g.136964119T>C , CM000667.1:g.136964119T>C	GRCh37
NC_000005.8:g.136992018T>C	NCBI36
NG_032569.1:g.112661A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1458A>G MANE Select	ENSP00000312397.4:p.Gly486=
ENST00000309755.8:c.1458A>G	ENSP00000312397.4:p.Gly486=
ENST00000447439.6:n.1514A>G
ENST00000504208.5:c.*342A>G	ENSP00000423585.1:n.*342A>G
ENST00000506491.5:c.1212A>G	ENSP00000424828.1:p.Gly404=
ENST00000506873.5:n.981A>G
ENST00000508657.5:c.1362A>G	ENSP00000422099.1:p.Gly454=
ENST00000509694.1:n.251A>G
NM_001257194.1:c.1362A>G	NP_001244123.1:p.Gly454=
NM_001257195.1:c.1212A>G	NP_001244124.1:p.Gly404=
NM_017415.2:c.1458A>G	NP_059111.2:p.Gly486=
NM_017415.3:c.1458A>G MANE Select	NP_059111.2:p.Gly486=
NM_001257195.2:c.1212A>G	NP_001244124.1:p.Gly404=