Canonical Allele Identifier: CA10620234

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 350979
• ClinVar RCV Id: RCV000350908 ; RCV001154114
• dbSNP Id: rs536807069
• gnomAD v3: 5-137621874-C-A
• gnomAD v4: 5-137621874-C-A
• MyVariant Identifiers: chr5:g.136957563C>A (hg19) ; chr5:g.137621874C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137621874C>A , CM000667.2:g.137621874C>A	GRCh38
NC_000005.9:g.136957563C>A , CM000667.1:g.136957563C>A	GRCh37
NC_000005.8:g.136985462C>A	NCBI36
NG_032569.1:g.119217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.*224G>T MANE Select	ENSP00000312397.4:n.*224G>T
ENST00000309755.8:c.*224G>T	ENSP00000312397.4:n.*224G>T
ENST00000447439.6:n.2044G>T
ENST00000506491.5:c.*224G>T	ENSP00000424828.1:n.*224G>T
ENST00000506873.5:n.1511G>T
ENST00000508657.5:c.*224G>T	ENSP00000422099.1:n.*224G>T
ENST00000509694.1:n.623-4010G>T
NM_001257194.1:c.*224G>T	NP_001244123.1:n.*224G>T
NM_001257195.1:c.*224G>T	NP_001244124.1:n.*224G>T
NM_017415.2:c.*224G>T	NP_059111.2:n.*224G>T
NM_017415.3:c.*224G>T MANE Select	NP_059111.2:n.*224G>T
NM_001257195.2:c.*224G>T	NP_001244124.1:n.*224G>T