Canonical Allele Identifier: CA10622684

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 350957
• ClinVar RCV Id: RCV000381525 ; RCV001154851
• dbSNP Id: rs886059948
• gnomAD v2: 5-136955764-C-G
• gnomAD v3: 5-137620075-C-G
• gnomAD v4: 5-137620075-C-G
• MyVariant Identifiers: chr5:g.136955764C>G (hg19) ; chr5:g.137620075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137620075C>G , CM000667.2:g.137620075C>G	GRCh38
NC_000005.9:g.136955764C>G , CM000667.1:g.136955764C>G	GRCh37
NC_000005.8:g.136983663C>G	NCBI36
NG_032569.1:g.121016G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.*2023G>C MANE Select	ENSP00000312397.4:n.*2023G>C
ENST00000309755.8:c.*2023G>C	ENSP00000312397.4:n.*2023G>C
ENST00000506491.5:c.*2023G>C	ENSP00000424828.1:n.*2023G>C
ENST00000508657.5:c.*2023G>C	ENSP00000422099.1:n.*2023G>C
ENST00000509694.1:n.623-2211G>C
NM_001257194.1:c.*2023G>C	NP_001244123.1:n.*2023G>C
NM_001257195.1:c.*2023G>C	NP_001244124.1:n.*2023G>C
NM_017415.2:c.*2023G>C	NP_059111.2:n.*2023G>C
NM_017415.3:c.*2023G>C MANE Select	NP_059111.2:n.*2023G>C
NM_001257195.2:c.*2023G>C	NP_001244124.1:n.*2023G>C