Canonical Allele Identifier: CA269986

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100550
• ClinVar RCV Id: RCV000128522 ; RCV002477257
• dbSNP Id: rs199469631
• MyVariant Identifiers: chr5:g.136973009C>T (hg19) ; chr5:g.137637320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137637320C>T , CM000667.2:g.137637320C>T	GRCh38
NC_000005.9:g.136973009C>T , CM000667.1:g.136973009C>T	GRCh37
NC_000005.8:g.137000908C>T	NCBI36
NG_032569.1:g.103771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1295G>A MANE Select	ENSP00000312397.4:p.Ser432Asn
ENST00000309755.8:c.1295G>A	ENSP00000312397.4:p.Ser432Asn
ENST00000502381.1:n.806+1633G>A
ENST00000504208.5:c.*335-8883G>A	ENSP00000423585.1:n.*335-8883G>A
ENST00000505853.1:c.1175G>A	ENSP00000426173.1:p.Ser392Asn
ENST00000506491.5:c.1049G>A	ENSP00000424828.1:p.Ser350Asn
ENST00000506873.5:n.844+1633G>A
ENST00000508657.5:c.1199G>A	ENSP00000422099.1:p.Ser400Asn
NM_001257194.1:c.1199G>A	NP_001244123.1:p.Ser400Asn
NM_001257195.1:c.1049G>A	NP_001244124.1:p.Ser350Asn
NM_017415.2:c.1295G>A	NP_059111.2:p.Ser432Asn
NM_017415.3:c.1295G>A MANE Select	NP_059111.2:p.Ser432Asn
NM_001257195.2:c.1049G>A	NP_001244124.1:p.Ser350Asn