Canonical Allele Identifier: CA269970

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100529
• ClinVar RCV Id: RCV000128501
• dbSNP Id: rs199469648
• MyVariant Identifiers: chr5:g.136997603C>T (hg19) ; chr5:g.137661914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137661914C>T , CM000667.2:g.137661914C>T	GRCh38
NC_000005.9:g.136997603C>T , CM000667.1:g.136997603C>T	GRCh37
NC_000005.8:g.137025502C>T	NCBI36
NG_032569.1:g.79177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.753+1G>A MANE Select	ENSP00000312397.4:n.753+1G>A
ENST00000309755.8:c.753+1G>A	ENSP00000312397.4:n.753+1G>A
ENST00000502381.1:n.340+1G>A
ENST00000504208.5:c.*184+1G>A	ENSP00000423585.1:n.*184+1G>A
ENST00000504496.5:n.629G>A
ENST00000505853.1:c.633+1G>A	ENSP00000426173.1:n.633+1G>A
ENST00000506491.5:c.507+1G>A	ENSP00000424828.1:n.507+1G>A
ENST00000506873.5:n.378+1G>A
ENST00000508657.5:c.657+1G>A	ENSP00000422099.1:n.657+1G>A
NM_001257194.1:c.657+1G>A	NP_001244123.1:n.657+1G>A
NM_001257195.1:c.507+1G>A	NP_001244124.1:n.507+1G>A
NM_017415.2:c.753+1G>A	NP_059111.2:n.753+1G>A
NM_017415.3:c.753+1G>A MANE Select	NP_059111.2:n.753+1G>A
NM_001257195.2:c.507+1G>A	NP_001244124.1:n.507+1G>A