Canonical Allele Identifier: CA3422179

Gene: KLHL3

Linked Data

• dbSNP Id: rs371203852
• ExAC: 5:136964042 G / A
• gnomAD v2: 5-136964042-G-A
• gnomAD v3: 5-137628353-G-A
• gnomAD v4: 5-137628353-G-A
• MyVariant Identifiers: chr5:g.136964042G>A (hg19) ; chr5:g.137628353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628353G>A , CM000667.2:g.137628353G>A	GRCh38
NC_000005.9:g.136964042G>A , CM000667.1:g.136964042G>A	GRCh37
NC_000005.8:g.136991941G>A	NCBI36
NG_032569.1:g.112738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1535C>T MANE Select	ENSP00000312397.4:p.Pro512Leu
ENST00000309755.8:c.1535C>T	ENSP00000312397.4:p.Pro512Leu
ENST00000447439.6:n.1591C>T
ENST00000504208.5:c.*419C>T	ENSP00000423585.1:n.*419C>T
ENST00000506491.5:c.1289C>T	ENSP00000424828.1:p.Pro430Leu
ENST00000506873.5:n.1058C>T
ENST00000508657.5:c.1439C>T	ENSP00000422099.1:p.Pro480Leu
ENST00000509694.1:n.328C>T
NM_001257194.1:c.1439C>T	NP_001244123.1:p.Pro480Leu
NM_001257195.1:c.1289C>T	NP_001244124.1:p.Pro430Leu
NM_017415.2:c.1535C>T	NP_059111.2:p.Pro512Leu
NM_017415.3:c.1535C>T MANE Select	NP_059111.2:p.Pro512Leu
NM_001257195.2:c.1289C>T	NP_001244124.1:p.Pro430Leu