Canonical Allele Identifier: CA3422296

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 2442206
• ClinVar RCV Id: RCV003148539 ; RCV003561194
• dbSNP Id: rs200892557
• ExAC: 5:136974777 G / A
• gnomAD v2: 5-136974777-G-A
• gnomAD v3: 5-137639088-G-A
• gnomAD v4: 5-137639088-G-A
• MyVariant Identifiers: chr5:g.136974777G>A (hg19) ; chr5:g.137639088G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639088G>A , CM000667.2:g.137639088G>A	GRCh38
NC_000005.9:g.136974777G>A , CM000667.1:g.136974777G>A	GRCh37
NC_000005.8:g.137002676G>A	NCBI36
NG_032569.1:g.102003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1084C>T MANE Select	ENSP00000312397.4:p.Arg362Trp
ENST00000309755.8:c.1084C>T	ENSP00000312397.4:p.Arg362Trp
ENST00000502381.1:n.671C>T
ENST00000504208.5:c.*335-10651C>T	ENSP00000423585.1:n.*335-10651C>T
ENST00000505853.1:c.964C>T	ENSP00000426173.1:p.Arg322Trp
ENST00000506491.5:c.838C>T	ENSP00000424828.1:p.Arg280Trp
ENST00000506873.5:n.709C>T
ENST00000508657.5:c.988C>T	ENSP00000422099.1:p.Arg330Trp
NM_001257194.1:c.988C>T	NP_001244123.1:p.Arg330Trp
NM_001257195.1:c.838C>T	NP_001244124.1:p.Arg280Trp
NM_017415.2:c.1084C>T	NP_059111.2:p.Arg362Trp
NM_017415.3:c.1084C>T MANE Select	NP_059111.2:p.Arg362Trp
NM_001257195.2:c.838C>T	NP_001244124.1:p.Arg280Trp