Canonical Allele Identifier: CA361048440

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974822C>T (hg19) ; chr5:g.137639133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639133C>T , CM000667.2:g.137639133C>T	GRCh38
NC_000005.9:g.136974822C>T , CM000667.1:g.136974822C>T	GRCh37
NC_000005.8:g.137002721C>T	NCBI36
NG_032569.1:g.101958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1039G>A MANE Select	ENSP00000312397.4:p.Gly347Ser
ENST00000309755.8:c.1039G>A	ENSP00000312397.4:p.Gly347Ser
ENST00000502381.1:n.626G>A
ENST00000504208.5:c.*335-10696G>A	ENSP00000423585.1:n.*335-10696G>A
ENST00000505853.1:c.919G>A	ENSP00000426173.1:p.Gly307Ser
ENST00000506491.5:c.793G>A	ENSP00000424828.1:p.Gly265Ser
ENST00000506873.5:n.664G>A
ENST00000508657.5:c.943G>A	ENSP00000422099.1:p.Gly315Ser
NM_001257194.1:c.943G>A	NP_001244123.1:p.Gly315Ser
NM_001257195.1:c.793G>A	NP_001244124.1:p.Gly265Ser
NM_017415.2:c.1039G>A	NP_059111.2:p.Gly347Ser
NM_017415.3:c.1039G>A MANE Select	NP_059111.2:p.Gly347Ser
NM_001257195.2:c.793G>A	NP_001244124.1:p.Gly265Ser