Canonical Allele Identifier: CA3422293

Gene: KLHL3

Linked Data

• dbSNP Id: rs777752533
• ExAC: 5:136974759 C / T
• gnomAD v2: 5-136974759-C-T
• gnomAD v4: 5-137639070-C-T
• MyVariant Identifiers: chr5:g.136974759C>T (hg19) ; chr5:g.137639070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639070C>T , CM000667.2:g.137639070C>T	GRCh38
NC_000005.9:g.136974759C>T , CM000667.1:g.136974759C>T	GRCh37
NC_000005.8:g.137002658C>T	NCBI36
NG_032569.1:g.102021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1102G>A MANE Select	ENSP00000312397.4:p.Asp368Asn
ENST00000309755.8:c.1102G>A	ENSP00000312397.4:p.Asp368Asn
ENST00000502381.1:n.689G>A
ENST00000504208.5:c.*335-10633G>A	ENSP00000423585.1:n.*335-10633G>A
ENST00000505853.1:c.982G>A	ENSP00000426173.1:p.Asp328Asn
ENST00000506491.5:c.856G>A	ENSP00000424828.1:p.Asp286Asn
ENST00000506873.5:n.727G>A
ENST00000508657.5:c.1006G>A	ENSP00000422099.1:p.Asp336Asn
NM_001257194.1:c.1006G>A	NP_001244123.1:p.Asp336Asn
NM_001257195.1:c.856G>A	NP_001244124.1:p.Asp286Asn
NM_017415.2:c.1102G>A	NP_059111.2:p.Asp368Asn
NM_017415.3:c.1102G>A MANE Select	NP_059111.2:p.Asp368Asn
NM_001257195.2:c.856G>A	NP_001244124.1:p.Asp286Asn