Canonical Allele Identifier: CA446556436

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964116C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628427C>G , CM000667.2:g.137628427C>G	GRCh38
NC_000005.9:g.136964116C>G , CM000667.1:g.136964116C>G	GRCh37
NC_000005.8:g.136992015C>G	NCBI36
NG_032569.1:g.112664G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1461G>C MANE Select	ENSP00000312397.4:p.Val487=
ENST00000309755.8:c.1461G>C	ENSP00000312397.4:p.Val487=
ENST00000447439.6:n.1517G>C
ENST00000504208.5:c.*345G>C	ENSP00000423585.1:n.*345G>C
ENST00000506491.5:c.1215G>C	ENSP00000424828.1:p.Val405=
ENST00000506873.5:n.984G>C
ENST00000508657.5:c.1365G>C	ENSP00000422099.1:p.Val455=
ENST00000509694.1:n.254G>C
NM_001257194.1:c.1365G>C	NP_001244123.1:p.Val455=
NM_001257195.1:c.1215G>C	NP_001244124.1:p.Val405=
NM_017415.2:c.1461G>C	NP_059111.2:p.Val487=
NM_017415.3:c.1461G>C MANE Select	NP_059111.2:p.Val487=
NM_001257195.2:c.1215G>C	NP_001244124.1:p.Val405=