Canonical Allele Identifier: CA2675417584

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137638888-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638888A>C , CM000667.2:g.137638888A>C	GRCh38
NC_000005.9:g.136974577A>C , CM000667.1:g.136974577A>C	GRCh37
NC_000005.8:g.137002476A>C	NCBI36
NG_032569.1:g.102203T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1219+65T>G MANE Select	ENSP00000312397.4:n.1219+65T>G
ENST00000309755.8:c.1219+65T>G	ENSP00000312397.4:n.1219+65T>G
ENST00000502381.1:n.806+65T>G
ENST00000504208.5:c.*335-10451T>G	ENSP00000423585.1:n.*335-10451T>G
ENST00000505853.1:c.1099+65T>G	ENSP00000426173.1:n.1099+65T>G
ENST00000506491.5:c.973+65T>G	ENSP00000424828.1:n.973+65T>G
ENST00000506873.5:n.844+65T>G
ENST00000508657.5:c.1123+65T>G	ENSP00000422099.1:n.1123+65T>G
NM_001257194.1:c.1123+65T>G	NP_001244123.1:n.1123+65T>G
NM_001257195.1:c.973+65T>G	NP_001244124.1:n.973+65T>G
NM_017415.2:c.1219+65T>G	NP_059111.2:n.1219+65T>G
NM_017415.3:c.1219+65T>G MANE Select	NP_059111.2:n.1219+65T>G
NM_001257195.2:c.973+65T>G	NP_001244124.1:n.973+65T>G