Canonical Allele Identifier: CA361048411

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639127-C-A
• MyVariant Identifiers: chr5:g.136974816C>A (hg19) ; chr5:g.137639127C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639127C>A , CM000667.2:g.137639127C>A	GRCh38
NC_000005.9:g.136974816C>A , CM000667.1:g.136974816C>A	GRCh37
NC_000005.8:g.137002715C>A	NCBI36
NG_032569.1:g.101964G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1045G>T MANE Select	ENSP00000312397.4:p.Val349Leu
ENST00000309755.8:c.1045G>T	ENSP00000312397.4:p.Val349Leu
ENST00000502381.1:n.632G>T
ENST00000504208.5:c.*335-10690G>T	ENSP00000423585.1:n.*335-10690G>T
ENST00000505853.1:c.925G>T	ENSP00000426173.1:p.Val309Leu
ENST00000506491.5:c.799G>T	ENSP00000424828.1:p.Val267Leu
ENST00000506873.5:n.670G>T
ENST00000508657.5:c.949G>T	ENSP00000422099.1:p.Val317Leu
NM_001257194.1:c.949G>T	NP_001244123.1:p.Val317Leu
NM_001257195.1:c.799G>T	NP_001244124.1:p.Val267Leu
NM_017415.2:c.1045G>T	NP_059111.2:p.Val349Leu
NM_017415.3:c.1045G>T MANE Select	NP_059111.2:p.Val349Leu
NM_001257195.2:c.799G>T	NP_001244124.1:p.Val267Leu