Canonical Allele Identifier: CA3422284

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 1916830
• ClinVar RCV Id: RCV002590729
• dbSNP Id: rs574883298
• ExAC: 5:136974727 G / A
• gnomAD v2: 5-136974727-G-A
• gnomAD v3: 5-137639038-G-A
• gnomAD v4: 5-137639038-G-A
• MyVariant Identifiers: chr5:g.136974727G>A (hg19) ; chr5:g.137639038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639038G>A , CM000667.2:g.137639038G>A	GRCh38
NC_000005.9:g.136974727G>A , CM000667.1:g.136974727G>A	GRCh37
NC_000005.8:g.137002626G>A	NCBI36
NG_032569.1:g.102053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1134C>T MANE Select	ENSP00000312397.4:p.Ala378=
ENST00000309755.8:c.1134C>T	ENSP00000312397.4:p.Ala378=
ENST00000502381.1:n.721C>T
ENST00000504208.5:c.*335-10601C>T	ENSP00000423585.1:n.*335-10601C>T
ENST00000505853.1:c.1014C>T	ENSP00000426173.1:p.Ala338=
ENST00000506491.5:c.888C>T	ENSP00000424828.1:p.Ala296=
ENST00000506873.5:n.759C>T
ENST00000508657.5:c.1038C>T	ENSP00000422099.1:p.Ala346=
NM_001257194.1:c.1038C>T	NP_001244123.1:p.Ala346=
NM_001257195.1:c.888C>T	NP_001244124.1:p.Ala296=
NM_017415.2:c.1134C>T	NP_059111.2:p.Ala378=
NM_017415.3:c.1134C>T MANE Select	NP_059111.2:p.Ala378=
NM_001257195.2:c.888C>T	NP_001244124.1:p.Ala296=