Canonical Allele Identifier: CA2675416067

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628047-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628047A>C , CM000667.2:g.137628047A>C	GRCh38
NC_000005.9:g.136963736A>C , CM000667.1:g.136963736A>C	GRCh37
NC_000005.8:g.136991635A>C	NCBI36
NG_032569.1:g.113044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+250T>G MANE Select	ENSP00000312397.4:n.1591+250T>G
ENST00000309755.8:c.1591+250T>G	ENSP00000312397.4:n.1591+250T>G
ENST00000447439.6:n.1647+250T>G
ENST00000504208.5:c.*475+250T>G	ENSP00000423585.1:n.*475+250T>G
ENST00000506491.5:c.1345+250T>G	ENSP00000424828.1:n.1345+250T>G
ENST00000506873.5:n.1114+250T>G
ENST00000508657.5:c.1495+250T>G	ENSP00000422099.1:n.1495+250T>G
ENST00000509694.1:n.622+12T>G
NM_001257194.1:c.1495+250T>G	NP_001244123.1:n.1495+250T>G
NM_001257195.1:c.1345+250T>G	NP_001244124.1:n.1345+250T>G
NM_017415.2:c.1591+250T>G	NP_059111.2:n.1591+250T>G
NM_017415.3:c.1591+250T>G MANE Select	NP_059111.2:n.1591+250T>G
NM_001257195.2:c.1345+250T>G	NP_001244124.1:n.1345+250T>G