Canonical Allele Identifier: CA269974

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100533
• ClinVar RCV Id: RCV000128505
• dbSNP Id: rs199469626
• MyVariant Identifiers: chr5:g.137028009C>A (hg19) ; chr5:g.137692320C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137692320C>A , CM000667.2:g.137692320C>A	GRCh38
NC_000005.9:g.137028009C>A , CM000667.1:g.137028009C>A	GRCh37
NC_000005.8:g.137055908C>A	NCBI36
NG_032569.1:g.48771G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.491G>T MANE Select	ENSP00000312397.4:p.Cys164Phe
ENST00000309755.8:c.491G>T	ENSP00000312397.4:p.Cys164Phe
ENST00000504208.5:c.245G>T	ENSP00000423585.1:p.Cys82Phe
ENST00000504496.5:n.366G>T
ENST00000505853.1:c.371G>T	ENSP00000426173.1:p.Cys124Phe
ENST00000506491.5:c.245G>T	ENSP00000424828.1:p.Cys82Phe
ENST00000508657.5:c.395G>T	ENSP00000422099.1:p.Cys132Phe
ENST00000510529.1:n.225G>T
ENST00000515334.5:n.398G>T
NM_001257194.1:c.395G>T	NP_001244123.1:p.Cys132Phe
NM_001257195.1:c.245G>T	NP_001244124.1:p.Cys82Phe
NM_017415.2:c.491G>T	NP_059111.2:p.Cys164Phe
NM_017415.3:c.491G>T MANE Select	NP_059111.2:p.Cys164Phe
NM_001257195.2:c.245G>T	NP_001244124.1:p.Cys82Phe