Canonical Allele Identifier: CA361045508

Gene: KLHL3

Linked Data

• dbSNP Id: rs1308635808
• gnomAD v2: 5-136964030-G-C
• gnomAD v3: 5-137628341-G-C
• gnomAD v4: 5-137628341-G-C
• MyVariant Identifiers: chr5:g.136964030G>C (hg19) ; chr5:g.137628341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628341G>C , CM000667.2:g.137628341G>C	GRCh38
NC_000005.9:g.136964030G>C , CM000667.1:g.136964030G>C	GRCh37
NC_000005.8:g.136991929G>C	NCBI36
NG_032569.1:g.112750C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1547C>G MANE Select	ENSP00000312397.4:p.Thr516Ser
ENST00000309755.8:c.1547C>G	ENSP00000312397.4:p.Thr516Ser
ENST00000447439.6:n.1603C>G
ENST00000504208.5:c.*431C>G	ENSP00000423585.1:n.*431C>G
ENST00000506491.5:c.1301C>G	ENSP00000424828.1:p.Thr434Ser
ENST00000506873.5:n.1070C>G
ENST00000508657.5:c.1451C>G	ENSP00000422099.1:p.Thr484Ser
ENST00000509694.1:n.340C>G
NM_001257194.1:c.1451C>G	NP_001244123.1:p.Thr484Ser
NM_001257195.1:c.1301C>G	NP_001244124.1:p.Thr434Ser
NM_017415.2:c.1547C>G	NP_059111.2:p.Thr516Ser
NM_017415.3:c.1547C>G MANE Select	NP_059111.2:p.Thr516Ser
NM_001257195.2:c.1301C>G	NP_001244124.1:p.Thr434Ser