Canonical Allele Identifier: CA361047807

Gene: KLHL3

Linked Data

• dbSNP Id: rs1750839251
• gnomAD v4: 5-137638958-C-T
• MyVariant Identifiers: chr5:g.136974647C>T (hg19) ; chr5:g.137638958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638958C>T , CM000667.2:g.137638958C>T	GRCh38
NC_000005.9:g.136974647C>T , CM000667.1:g.136974647C>T	GRCh37
NC_000005.8:g.137002546C>T	NCBI36
NG_032569.1:g.102133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1214G>A MANE Select	ENSP00000312397.4:p.Ser405Asn
ENST00000309755.8:c.1214G>A	ENSP00000312397.4:p.Ser405Asn
ENST00000502381.1:n.801G>A
ENST00000504208.5:c.*335-10521G>A	ENSP00000423585.1:n.*335-10521G>A
ENST00000505853.1:c.1094G>A	ENSP00000426173.1:p.Ser365Asn
ENST00000506491.5:c.968G>A	ENSP00000424828.1:p.Ser323Asn
ENST00000506873.5:n.839G>A
ENST00000508657.5:c.1118G>A	ENSP00000422099.1:p.Ser373Asn
NM_001257194.1:c.1118G>A	NP_001244123.1:p.Ser373Asn
NM_001257195.1:c.968G>A	NP_001244124.1:p.Ser323Asn
NM_017415.2:c.1214G>A	NP_059111.2:p.Ser405Asn
NM_017415.3:c.1214G>A MANE Select	NP_059111.2:p.Ser405Asn
NM_001257195.2:c.968G>A	NP_001244124.1:p.Ser323Asn