Canonical Allele Identifier: CA3422336

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 2731564
• ClinVar RCV Id: RCV003580049
• dbSNP Id: rs771678257
• ExAC: 5:136975649 G / A
• gnomAD v2: 5-136975649-G-A
• gnomAD v3: 5-137639960-G-A
• gnomAD v4: 5-137639960-G-A
• COSMIC: COSM3138846
• MyVariant Identifiers: chr5:g.136975649G>A (hg19) ; chr5:g.137639960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639960G>A , CM000667.2:g.137639960G>A	GRCh38
NC_000005.9:g.136975649G>A , CM000667.1:g.136975649G>A	GRCh37
NC_000005.8:g.137003548G>A	NCBI36
NG_032569.1:g.101131C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.921C>T MANE Select	ENSP00000312397.4:p.Gly307=
ENST00000309755.8:c.921C>T	ENSP00000312397.4:p.Gly307=
ENST00000502381.1:n.508C>T
ENST00000504208.5:c.*335-11523C>T	ENSP00000423585.1:n.*335-11523C>T
ENST00000505853.1:c.801C>T	ENSP00000426173.1:p.Gly267=
ENST00000506491.5:c.675C>T	ENSP00000424828.1:p.Gly225=
ENST00000506873.5:n.546C>T
ENST00000508657.5:c.825C>T	ENSP00000422099.1:p.Gly275=
NM_001257194.1:c.825C>T	NP_001244123.1:p.Gly275=
NM_001257195.1:c.675C>T	NP_001244124.1:p.Gly225=
NM_017415.2:c.921C>T	NP_059111.2:p.Gly307=
NM_017415.3:c.921C>T MANE Select	NP_059111.2:p.Gly307=
NM_001257195.2:c.675C>T	NP_001244124.1:p.Gly225=