Canonical Allele Identifier: CA361049007

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136975651C>A (hg19) ; chr5:g.137639962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639962C>A , CM000667.2:g.137639962C>A	GRCh38
NC_000005.9:g.136975651C>A , CM000667.1:g.136975651C>A	GRCh37
NC_000005.8:g.137003550C>A	NCBI36
NG_032569.1:g.101129G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.919G>T MANE Select	ENSP00000312397.4:p.Gly307Cys
ENST00000309755.8:c.919G>T	ENSP00000312397.4:p.Gly307Cys
ENST00000502381.1:n.506G>T
ENST00000504208.5:c.*335-11525G>T	ENSP00000423585.1:n.*335-11525G>T
ENST00000505853.1:c.799G>T	ENSP00000426173.1:p.Gly267Cys
ENST00000506491.5:c.673G>T	ENSP00000424828.1:p.Gly225Cys
ENST00000506873.5:n.544G>T
ENST00000508657.5:c.823G>T	ENSP00000422099.1:p.Gly275Cys
NM_001257194.1:c.823G>T	NP_001244123.1:p.Gly275Cys
NM_001257195.1:c.673G>T	NP_001244124.1:p.Gly225Cys
NM_017415.2:c.919G>T	NP_059111.2:p.Gly307Cys
NM_017415.3:c.919G>T MANE Select	NP_059111.2:p.Gly307Cys
NM_001257195.2:c.673G>T	NP_001244124.1:p.Gly225Cys