Canonical Allele Identifier: CA361048619

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136975557C>A (hg19) ; chr5:g.137639868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639868C>A , CM000667.2:g.137639868C>A	GRCh38
NC_000005.9:g.136975557C>A , CM000667.1:g.136975557C>A	GRCh37
NC_000005.8:g.137003456C>A	NCBI36
NG_032569.1:g.101223G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1013G>T MANE Select	ENSP00000312397.4:p.Cys338Phe
ENST00000309755.8:c.1013G>T	ENSP00000312397.4:p.Cys338Phe
ENST00000502381.1:n.600G>T
ENST00000504208.5:c.*335-11431G>T	ENSP00000423585.1:n.*335-11431G>T
ENST00000505853.1:c.893G>T	ENSP00000426173.1:p.Cys298Phe
ENST00000506491.5:c.767G>T	ENSP00000424828.1:p.Cys256Phe
ENST00000506873.5:n.638G>T
ENST00000508657.5:c.917G>T	ENSP00000422099.1:p.Cys306Phe
NM_001257194.1:c.917G>T	NP_001244123.1:p.Cys306Phe
NM_001257195.1:c.767G>T	NP_001244124.1:p.Cys256Phe
NM_017415.2:c.1013G>T	NP_059111.2:p.Cys338Phe
NM_017415.3:c.1013G>T MANE Select	NP_059111.2:p.Cys338Phe
NM_001257195.2:c.767G>T	NP_001244124.1:p.Cys256Phe