Canonical Allele Identifier: CA361047827

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974656A>C (hg19) ; chr5:g.137638967A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638967A>C , CM000667.2:g.137638967A>C	GRCh38
NC_000005.9:g.136974656A>C , CM000667.1:g.136974656A>C	GRCh37
NC_000005.8:g.137002555A>C	NCBI36
NG_032569.1:g.102124T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1205T>G MANE Select	ENSP00000312397.4:p.Phe402Cys
ENST00000309755.8:c.1205T>G	ENSP00000312397.4:p.Phe402Cys
ENST00000502381.1:n.792T>G
ENST00000504208.5:c.*335-10530T>G	ENSP00000423585.1:n.*335-10530T>G
ENST00000505853.1:c.1085T>G	ENSP00000426173.1:p.Phe362Cys
ENST00000506491.5:c.959T>G	ENSP00000424828.1:p.Phe320Cys
ENST00000506873.5:n.830T>G
ENST00000508657.5:c.1109T>G	ENSP00000422099.1:p.Phe370Cys
NM_001257194.1:c.1109T>G	NP_001244123.1:p.Phe370Cys
NM_001257195.1:c.959T>G	NP_001244124.1:p.Phe320Cys
NM_017415.2:c.1205T>G	NP_059111.2:p.Phe402Cys
NM_017415.3:c.1205T>G MANE Select	NP_059111.2:p.Phe402Cys
NM_001257195.2:c.959T>G	NP_001244124.1:p.Phe320Cys