Canonical Allele Identifier: CA361048348

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974801C>A (hg19) ; chr5:g.137639112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639112C>A , CM000667.2:g.137639112C>A	GRCh38
NC_000005.9:g.136974801C>A , CM000667.1:g.136974801C>A	GRCh37
NC_000005.8:g.137002700C>A	NCBI36
NG_032569.1:g.101979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1060G>T MANE Select	ENSP00000312397.4:p.Gly354Trp
ENST00000309755.8:c.1060G>T	ENSP00000312397.4:p.Gly354Trp
ENST00000502381.1:n.647G>T
ENST00000504208.5:c.*335-10675G>T	ENSP00000423585.1:n.*335-10675G>T
ENST00000505853.1:c.940G>T	ENSP00000426173.1:p.Gly314Trp
ENST00000506491.5:c.814G>T	ENSP00000424828.1:p.Gly272Trp
ENST00000506873.5:n.685G>T
ENST00000508657.5:c.964G>T	ENSP00000422099.1:p.Gly322Trp
NM_001257194.1:c.964G>T	NP_001244123.1:p.Gly322Trp
NM_001257195.1:c.814G>T	NP_001244124.1:p.Gly272Trp
NM_017415.2:c.1060G>T	NP_059111.2:p.Gly354Trp
NM_017415.3:c.1060G>T MANE Select	NP_059111.2:p.Gly354Trp
NM_001257195.2:c.814G>T	NP_001244124.1:p.Gly272Trp