Canonical Allele Identifier: CA2675416138

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628084-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628084T>C , CM000667.2:g.137628084T>C	GRCh38
NC_000005.9:g.136963773T>C , CM000667.1:g.136963773T>C	GRCh37
NC_000005.8:g.136991672T>C	NCBI36
NG_032569.1:g.113007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+213A>G MANE Select	ENSP00000312397.4:n.1591+213A>G
ENST00000309755.8:c.1591+213A>G	ENSP00000312397.4:n.1591+213A>G
ENST00000447439.6:n.1647+213A>G
ENST00000504208.5:c.*475+213A>G	ENSP00000423585.1:n.*475+213A>G
ENST00000506491.5:c.1345+213A>G	ENSP00000424828.1:n.1345+213A>G
ENST00000506873.5:n.1114+213A>G
ENST00000508657.5:c.1495+213A>G	ENSP00000422099.1:n.1495+213A>G
ENST00000509694.1:n.597A>G
NM_001257194.1:c.1495+213A>G	NP_001244123.1:n.1495+213A>G
NM_001257195.1:c.1345+213A>G	NP_001244124.1:n.1345+213A>G
NM_017415.2:c.1591+213A>G	NP_059111.2:n.1591+213A>G
NM_017415.3:c.1591+213A>G MANE Select	NP_059111.2:n.1591+213A>G
NM_001257195.2:c.1345+213A>G	NP_001244124.1:n.1345+213A>G