Canonical Allele Identifier: CA10622702

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 350980
• ClinVar RCV Id: RCV000372230 ; RCV001154116
• dbSNP Id: rs886059957
• gnomAD v3: 5-137621949-C-T
• gnomAD v4: 5-137621949-C-T
• MyVariant Identifiers: chr5:g.136957638C>T (hg19) ; chr5:g.137621949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137621949C>T , CM000667.2:g.137621949C>T	GRCh38
NC_000005.9:g.136957638C>T , CM000667.1:g.136957638C>T	GRCh37
NC_000005.8:g.136985537C>T	NCBI36
NG_032569.1:g.119142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.*149G>A MANE Select	ENSP00000312397.4:n.*149G>A
ENST00000309755.8:c.*149G>A	ENSP00000312397.4:n.*149G>A
ENST00000447439.6:n.1969G>A
ENST00000504208.5:c.*797G>A	ENSP00000423585.1:n.*797G>A
ENST00000506491.5:c.*149G>A	ENSP00000424828.1:n.*149G>A
ENST00000506873.5:n.1436G>A
ENST00000508657.5:c.*149G>A	ENSP00000422099.1:n.*149G>A
ENST00000509694.1:n.623-4085G>A
NM_001257194.1:c.*149G>A	NP_001244123.1:n.*149G>A
NM_001257195.1:c.*149G>A	NP_001244124.1:n.*149G>A
NM_017415.2:c.*149G>A	NP_059111.2:n.*149G>A
NM_017415.3:c.*149G>A MANE Select	NP_059111.2:n.*149G>A
NM_001257195.2:c.*149G>A	NP_001244124.1:n.*149G>A