Canonical Allele Identifier: CA361047848

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137638977-C-A
• MyVariant Identifiers: chr5:g.136974666C>A (hg19) ; chr5:g.137638977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638977C>A , CM000667.2:g.137638977C>A	GRCh38
NC_000005.9:g.136974666C>A , CM000667.1:g.136974666C>A	GRCh37
NC_000005.8:g.137002565C>A	NCBI36
NG_032569.1:g.102114G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1195G>T MANE Select	ENSP00000312397.4:p.Val399Leu
ENST00000309755.8:c.1195G>T	ENSP00000312397.4:p.Val399Leu
ENST00000502381.1:n.782G>T
ENST00000504208.5:c.*335-10540G>T	ENSP00000423585.1:n.*335-10540G>T
ENST00000505853.1:c.1075G>T	ENSP00000426173.1:p.Val359Leu
ENST00000506491.5:c.949G>T	ENSP00000424828.1:p.Val317Leu
ENST00000506873.5:n.820G>T
ENST00000508657.5:c.1099G>T	ENSP00000422099.1:p.Val367Leu
NM_001257194.1:c.1099G>T	NP_001244123.1:p.Val367Leu
NM_001257195.1:c.949G>T	NP_001244124.1:p.Val317Leu
NM_017415.2:c.1195G>T	NP_059111.2:p.Val399Leu
NM_017415.3:c.1195G>T MANE Select	NP_059111.2:p.Val399Leu
NM_001257195.2:c.949G>T	NP_001244124.1:p.Val317Leu