Canonical Allele Identifier: CA361049008

Gene: KLHL3

Linked Data

• dbSNP Id: rs1750870082
• gnomAD v3: 5-137639962-C-G
• gnomAD v4: 5-137639962-C-G
• MyVariant Identifiers: chr5:g.136975651C>G (hg19) ; chr5:g.137639962C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639962C>G , CM000667.2:g.137639962C>G	GRCh38
NC_000005.9:g.136975651C>G , CM000667.1:g.136975651C>G	GRCh37
NC_000005.8:g.137003550C>G	NCBI36
NG_032569.1:g.101129G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.919G>C MANE Select	ENSP00000312397.4:p.Gly307Arg
ENST00000309755.8:c.919G>C	ENSP00000312397.4:p.Gly307Arg
ENST00000502381.1:n.506G>C
ENST00000504208.5:c.*335-11525G>C	ENSP00000423585.1:n.*335-11525G>C
ENST00000505853.1:c.799G>C	ENSP00000426173.1:p.Gly267Arg
ENST00000506491.5:c.673G>C	ENSP00000424828.1:p.Gly225Arg
ENST00000506873.5:n.544G>C
ENST00000508657.5:c.823G>C	ENSP00000422099.1:p.Gly275Arg
NM_001257194.1:c.823G>C	NP_001244123.1:p.Gly275Arg
NM_001257195.1:c.673G>C	NP_001244124.1:p.Gly225Arg
NM_017415.2:c.919G>C	NP_059111.2:p.Gly307Arg
NM_017415.3:c.919G>C MANE Select	NP_059111.2:p.Gly307Arg
NM_001257195.2:c.673G>C	NP_001244124.1:p.Gly225Arg