Canonical Allele Identifier: CA446561568

Gene: KLHL3

Linked Data

• dbSNP Id: rs1561586752
• gnomAD v4: 5-137639957-G-A
• MyVariant Identifiers: chr5:g.136975646G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639957G>A , CM000667.2:g.137639957G>A	GRCh38
NC_000005.9:g.136975646G>A , CM000667.1:g.136975646G>A	GRCh37
NC_000005.8:g.137003545G>A	NCBI36
NG_032569.1:g.101134C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.924C>T MANE Select	ENSP00000312397.4:p.Gly308=
ENST00000309755.8:c.924C>T	ENSP00000312397.4:p.Gly308=
ENST00000502381.1:n.511C>T
ENST00000504208.5:c.*335-11520C>T	ENSP00000423585.1:n.*335-11520C>T
ENST00000505853.1:c.804C>T	ENSP00000426173.1:p.Gly268=
ENST00000506491.5:c.678C>T	ENSP00000424828.1:p.Gly226=
ENST00000506873.5:n.549C>T
ENST00000508657.5:c.828C>T	ENSP00000422099.1:p.Gly276=
NM_001257194.1:c.828C>T	NP_001244123.1:p.Gly276=
NM_001257195.1:c.678C>T	NP_001244124.1:p.Gly226=
NM_017415.2:c.924C>T	NP_059111.2:p.Gly308=
NM_017415.3:c.924C>T MANE Select	NP_059111.2:p.Gly308=
NM_001257195.2:c.678C>T	NP_001244124.1:p.Gly226=