Canonical Allele Identifier: CA3422320

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 350989
• ClinVar RCV Id: RCV000366474 ; RCV001156624 ; RCV003718222
• dbSNP Id: rs183499982
• ExAC: 5:136975544 C / T
• gnomAD v2: 5-136975544-C-T
• gnomAD v3: 5-137639855-C-T
• gnomAD v4: 5-137639855-C-T
• MyVariant Identifiers: chr5:g.136975544C>T (hg19) ; chr5:g.137639855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639855C>T , CM000667.2:g.137639855C>T	GRCh38
NC_000005.9:g.136975544C>T , CM000667.1:g.136975544C>T	GRCh37
NC_000005.8:g.137003443C>T	NCBI36
NG_032569.1:g.101236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1021+5G>A MANE Select	ENSP00000312397.4:n.1021+5G>A
ENST00000309755.8:c.1021+5G>A	ENSP00000312397.4:n.1021+5G>A
ENST00000502381.1:n.608+5G>A
ENST00000504208.5:c.*335-11418G>A	ENSP00000423585.1:n.*335-11418G>A
ENST00000505853.1:c.901+5G>A	ENSP00000426173.1:n.901+5G>A
ENST00000506491.5:c.775+5G>A	ENSP00000424828.1:n.775+5G>A
ENST00000506873.5:n.646+5G>A
ENST00000508657.5:c.925+5G>A	ENSP00000422099.1:n.925+5G>A
NM_001257194.1:c.925+5G>A	NP_001244123.1:n.925+5G>A
NM_001257195.1:c.775+5G>A	NP_001244124.1:n.775+5G>A
NM_017415.2:c.1021+5G>A	NP_059111.2:n.1021+5G>A
NM_017415.3:c.1021+5G>A MANE Select	NP_059111.2:n.1021+5G>A
NM_001257195.2:c.775+5G>A	NP_001244124.1:n.775+5G>A