Canonical Allele Identifier: CA361048063

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639045-G-A
• MyVariant Identifiers: chr5:g.136974734G>A (hg19) ; chr5:g.137639045G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639045G>A , CM000667.2:g.137639045G>A	GRCh38
NC_000005.9:g.136974734G>A , CM000667.1:g.136974734G>A	GRCh37
NC_000005.8:g.137002633G>A	NCBI36
NG_032569.1:g.102046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1127C>T MANE Select	ENSP00000312397.4:p.Ser376Phe
ENST00000309755.8:c.1127C>T	ENSP00000312397.4:p.Ser376Phe
ENST00000502381.1:n.714C>T
ENST00000504208.5:c.*335-10608C>T	ENSP00000423585.1:n.*335-10608C>T
ENST00000505853.1:c.1007C>T	ENSP00000426173.1:p.Ser336Phe
ENST00000506491.5:c.881C>T	ENSP00000424828.1:p.Ser294Phe
ENST00000506873.5:n.752C>T
ENST00000508657.5:c.1031C>T	ENSP00000422099.1:p.Ser344Phe
NM_001257194.1:c.1031C>T	NP_001244123.1:p.Ser344Phe
NM_001257195.1:c.881C>T	NP_001244124.1:p.Ser294Phe
NM_017415.2:c.1127C>T	NP_059111.2:p.Ser376Phe
NM_017415.3:c.1127C>T MANE Select	NP_059111.2:p.Ser376Phe
NM_001257195.2:c.881C>T	NP_001244124.1:p.Ser294Phe