Canonical Allele Identifier: CA10622737

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 351000
• ClinVar RCV Id: RCV000367355 ; RCV001156727
• dbSNP Id: rs567542768
• gnomAD v2: 5-137071638-C-G
• gnomAD v3: 5-137735949-C-G
• gnomAD v4: 5-137735949-C-G
• MyVariant Identifiers: chr5:g.137071638C>G (hg19) ; chr5:g.137735949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137735949C>G , CM000667.2:g.137735949C>G	GRCh38
NC_000005.9:g.137071638C>G , CM000667.1:g.137071638C>G	GRCh37
NC_000005.8:g.137099537C>G	NCBI36
NG_032569.1:g.5142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.-303G>C MANE Select	ENSP00000312397.4:n.-303G>C
ENST00000309755.8:c.-303G>C	ENSP00000312397.4:n.-303G>C
ENST00000505853.1:c.-303G>C	ENSP00000426173.1:n.-303G>C
NM_017415.2:c.-303G>C	NP_059111.2:n.-303G>C
NM_017415.3:c.-303G>C MANE Select	NP_059111.2:n.-303G>C