Canonical Allele Identifier: CA10619084

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 350978
• ClinVar RCV Id: RCV000293639 ; RCV001154113
• dbSNP Id: rs539132895
• gnomAD v2: 5-136957488-C-T
• gnomAD v3: 5-137621799-C-T
• gnomAD v4: 5-137621799-C-T
• MyVariant Identifiers: chr5:g.136957488C>T (hg19) ; chr5:g.137621799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137621799C>T , CM000667.2:g.137621799C>T	GRCh38
NC_000005.9:g.136957488C>T , CM000667.1:g.136957488C>T	GRCh37
NC_000005.8:g.136985387C>T	NCBI36
NG_032569.1:g.119292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.*299G>A MANE Select	ENSP00000312397.4:n.*299G>A
ENST00000309755.8:c.*299G>A	ENSP00000312397.4:n.*299G>A
ENST00000447439.6:n.2119G>A
ENST00000506491.5:c.*299G>A	ENSP00000424828.1:n.*299G>A
ENST00000506873.5:n.1586G>A
ENST00000508657.5:c.*299G>A	ENSP00000422099.1:n.*299G>A
ENST00000509694.1:n.623-3935G>A
NM_001257194.1:c.*299G>A	NP_001244123.1:n.*299G>A
NM_001257195.1:c.*299G>A	NP_001244124.1:n.*299G>A
NM_017415.2:c.*299G>A	NP_059111.2:n.*299G>A
NM_017415.3:c.*299G>A MANE Select	NP_059111.2:n.*299G>A
NM_001257195.2:c.*299G>A	NP_001244124.1:n.*299G>A