Canonical Allele Identifier: CA446561480

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639870-T-C
• MyVariant Identifiers: chr5:g.136975559T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639870T>C , CM000667.2:g.137639870T>C	GRCh38
NC_000005.9:g.136975559T>C , CM000667.1:g.136975559T>C	GRCh37
NC_000005.8:g.137003458T>C	NCBI36
NG_032569.1:g.101221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1011A>G MANE Select	ENSP00000312397.4:p.Arg337=
ENST00000309755.8:c.1011A>G	ENSP00000312397.4:p.Arg337=
ENST00000502381.1:n.598A>G
ENST00000504208.5:c.*335-11433A>G	ENSP00000423585.1:n.*335-11433A>G
ENST00000505853.1:c.891A>G	ENSP00000426173.1:p.Arg297=
ENST00000506491.5:c.765A>G	ENSP00000424828.1:p.Arg255=
ENST00000506873.5:n.636A>G
ENST00000508657.5:c.915A>G	ENSP00000422099.1:p.Arg305=
NM_001257194.1:c.915A>G	NP_001244123.1:p.Arg305=
NM_001257195.1:c.765A>G	NP_001244124.1:p.Arg255=
NM_017415.2:c.1011A>G	NP_059111.2:p.Arg337=
NM_017415.3:c.1011A>G MANE Select	NP_059111.2:p.Arg337=
NM_001257195.2:c.765A>G	NP_001244124.1:p.Arg255=