Canonical Allele Identifier: CA361048380

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974809G>C (hg19) ; chr5:g.137639120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639120G>C , CM000667.2:g.137639120G>C	GRCh38
NC_000005.9:g.136974809G>C , CM000667.1:g.136974809G>C	GRCh37
NC_000005.8:g.137002708G>C	NCBI36
NG_032569.1:g.101971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1052C>G MANE Select	ENSP00000312397.4:p.Ala351Gly
ENST00000309755.8:c.1052C>G	ENSP00000312397.4:p.Ala351Gly
ENST00000502381.1:n.639C>G
ENST00000504208.5:c.*335-10683C>G	ENSP00000423585.1:n.*335-10683C>G
ENST00000505853.1:c.932C>G	ENSP00000426173.1:p.Ala311Gly
ENST00000506491.5:c.806C>G	ENSP00000424828.1:p.Ala269Gly
ENST00000506873.5:n.677C>G
ENST00000508657.5:c.956C>G	ENSP00000422099.1:p.Ala319Gly
NM_001257194.1:c.956C>G	NP_001244123.1:p.Ala319Gly
NM_001257195.1:c.806C>G	NP_001244124.1:p.Ala269Gly
NM_017415.2:c.1052C>G	NP_059111.2:p.Ala351Gly
NM_017415.3:c.1052C>G MANE Select	NP_059111.2:p.Ala351Gly
NM_001257195.2:c.806C>G	NP_001244124.1:p.Ala269Gly