Canonical Allele Identifier: CA361045618

Gene: KLHL3

Linked Data

• dbSNP Id: rs1177398173
• gnomAD v3: 5-137628371-C-G
• gnomAD v4: 5-137628371-C-G
• MyVariant Identifiers: chr5:g.136964060C>G (hg19) ; chr5:g.137628371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628371C>G , CM000667.2:g.137628371C>G	GRCh38
NC_000005.9:g.136964060C>G , CM000667.1:g.136964060C>G	GRCh37
NC_000005.8:g.136991959C>G	NCBI36
NG_032569.1:g.112720G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1517G>C MANE Select	ENSP00000312397.4:p.Ser506Thr
ENST00000309755.8:c.1517G>C	ENSP00000312397.4:p.Ser506Thr
ENST00000447439.6:n.1573G>C
ENST00000504208.5:c.*401G>C	ENSP00000423585.1:n.*401G>C
ENST00000506491.5:c.1271G>C	ENSP00000424828.1:p.Ser424Thr
ENST00000506873.5:n.1040G>C
ENST00000508657.5:c.1421G>C	ENSP00000422099.1:p.Ser474Thr
ENST00000509694.1:n.310G>C
NM_001257194.1:c.1421G>C	NP_001244123.1:p.Ser474Thr
NM_001257195.1:c.1271G>C	NP_001244124.1:p.Ser424Thr
NM_017415.2:c.1517G>C	NP_059111.2:p.Ser506Thr
NM_017415.3:c.1517G>C MANE Select	NP_059111.2:p.Ser506Thr
NM_001257195.2:c.1271G>C	NP_001244124.1:p.Ser424Thr