Canonical Allele Identifier: CA3422281

Gene: KLHL3

Linked Data

• dbSNP Id: rs759356180
• ExAC: 5:136974691 C / T
• gnomAD v2: 5-136974691-C-T
• gnomAD v3: 5-137639002-C-T
• gnomAD v4: 5-137639002-C-T
• MyVariant Identifiers: chr5:g.136974691C>T (hg19) ; chr5:g.137639002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639002C>T , CM000667.2:g.137639002C>T	GRCh38
NC_000005.9:g.136974691C>T , CM000667.1:g.136974691C>T	GRCh37
NC_000005.8:g.137002590C>T	NCBI36
NG_032569.1:g.102089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1170G>A MANE Select	ENSP00000312397.4:p.Ala390=
ENST00000309755.8:c.1170G>A	ENSP00000312397.4:p.Ala390=
ENST00000502381.1:n.757G>A
ENST00000504208.5:c.*335-10565G>A	ENSP00000423585.1:n.*335-10565G>A
ENST00000505853.1:c.1050G>A	ENSP00000426173.1:p.Ala350=
ENST00000506491.5:c.924G>A	ENSP00000424828.1:p.Ala308=
ENST00000506873.5:n.795G>A
ENST00000508657.5:c.1074G>A	ENSP00000422099.1:p.Ala358=
NM_001257194.1:c.1074G>A	NP_001244123.1:p.Ala358=
NM_001257195.1:c.924G>A	NP_001244124.1:p.Ala308=
NM_017415.2:c.1170G>A	NP_059111.2:p.Ala390=
NM_017415.3:c.1170G>A MANE Select	NP_059111.2:p.Ala390=
NM_001257195.2:c.924G>A	NP_001244124.1:p.Ala308=