Canonical Allele Identifier: CA2675417630

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639200-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639200C>A , CM000667.2:g.137639200C>A	GRCh38
NC_000005.9:g.136974889C>A , CM000667.1:g.136974889C>A	GRCh37
NC_000005.8:g.137002788C>A	NCBI36
NG_032569.1:g.101891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1022-50G>T MANE Select	ENSP00000312397.4:n.1022-50G>T
ENST00000309755.8:c.1022-50G>T	ENSP00000312397.4:n.1022-50G>T
ENST00000502381.1:n.609-50G>T
ENST00000504208.5:c.*335-10763G>T	ENSP00000423585.1:n.*335-10763G>T
ENST00000505853.1:c.902-50G>T	ENSP00000426173.1:n.902-50G>T
ENST00000506491.5:c.776-50G>T	ENSP00000424828.1:n.776-50G>T
ENST00000506873.5:n.647-50G>T
ENST00000508657.5:c.926-50G>T	ENSP00000422099.1:n.926-50G>T
NM_001257194.1:c.926-50G>T	NP_001244123.1:n.926-50G>T
NM_001257195.1:c.776-50G>T	NP_001244124.1:n.776-50G>T
NM_017415.2:c.1022-50G>T	NP_059111.2:n.1022-50G>T
NM_017415.3:c.1022-50G>T MANE Select	NP_059111.2:n.1022-50G>T
NM_001257195.2:c.776-50G>T	NP_001244124.1:n.776-50G>T