Canonical Allele Identifier: CA3422096

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 350983
• ClinVar RCV Id: RCV000399262 ; RCV001154119
• dbSNP Id: rs762735618
• ExAC: 5:136957748 C / T
• gnomAD v2: 5-136957748-C-T
• gnomAD v3: 5-137622059-C-T
• gnomAD v4: 5-137622059-C-T
• MyVariant Identifiers: chr5:g.136957748C>T (hg19) ; chr5:g.137622059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137622059C>T , CM000667.2:g.137622059C>T	GRCh38
NC_000005.9:g.136957748C>T , CM000667.1:g.136957748C>T	GRCh37
NC_000005.8:g.136985647C>T	NCBI36
NG_032569.1:g.119032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.*39G>A MANE Select	ENSP00000312397.4:n.*39G>A
ENST00000309755.8:c.*39G>A	ENSP00000312397.4:n.*39G>A
ENST00000447439.6:n.1859G>A
ENST00000504208.5:c.*687G>A	ENSP00000423585.1:n.*687G>A
ENST00000506491.5:c.*39G>A	ENSP00000424828.1:n.*39G>A
ENST00000506873.5:n.1326G>A
ENST00000508657.5:c.*39G>A	ENSP00000422099.1:n.*39G>A
ENST00000509694.1:n.623-4195G>A
NM_001257194.1:c.*39G>A	NP_001244123.1:n.*39G>A
NM_001257195.1:c.*39G>A	NP_001244124.1:n.*39G>A
NM_017415.2:c.*39G>A	NP_059111.2:n.*39G>A
NM_017415.3:c.*39G>A MANE Select	NP_059111.2:n.*39G>A
NM_001257195.2:c.*39G>A	NP_001244124.1:n.*39G>A