Canonical Allele Identifier: CA3422174

Gene: KLHL3

Linked Data

• dbSNP Id: rs757503242
• ExAC: 5:136963998 G / A
• gnomAD v2: 5-136963998-G-A
• gnomAD v3: 5-137628309-G-A
• gnomAD v4: 5-137628309-G-A
• MyVariant Identifiers: chr5:g.136963998G>A (hg19) ; chr5:g.137628309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628309G>A , CM000667.2:g.137628309G>A	GRCh38
NC_000005.9:g.136963998G>A , CM000667.1:g.136963998G>A	GRCh37
NC_000005.8:g.136991897G>A	NCBI36
NG_032569.1:g.112782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1579C>T MANE Select	ENSP00000312397.4:p.Arg527Trp
ENST00000309755.8:c.1579C>T	ENSP00000312397.4:p.Arg527Trp
ENST00000447439.6:n.1635C>T
ENST00000504208.5:c.*463C>T	ENSP00000423585.1:n.*463C>T
ENST00000506491.5:c.1333C>T	ENSP00000424828.1:p.Arg445Trp
ENST00000506873.5:n.1102C>T
ENST00000508657.5:c.1483C>T	ENSP00000422099.1:p.Arg495Trp
ENST00000509694.1:n.372C>T
NM_001257194.1:c.1483C>T	NP_001244123.1:p.Arg495Trp
NM_001257195.1:c.1333C>T	NP_001244124.1:p.Arg445Trp
NM_017415.2:c.1579C>T	NP_059111.2:p.Arg527Trp
NM_017415.3:c.1579C>T MANE Select	NP_059111.2:p.Arg527Trp
NM_001257195.2:c.1333C>T	NP_001244124.1:p.Arg445Trp