Canonical Allele Identifier: CA915211924

Gene: KLHL3

Linked Data

• gnomAD v2: 5-136963938-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628249G>A , CM000667.2:g.137628249G>A	GRCh38
NC_000005.9:g.136963938G>A , CM000667.1:g.136963938G>A	GRCh37
NC_000005.8:g.136991837G>A	NCBI36
NG_032569.1:g.112842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+48C>T MANE Select	ENSP00000312397.4:n.1591+48C>T
ENST00000309755.8:c.1591+48C>T	ENSP00000312397.4:n.1591+48C>T
ENST00000447439.6:n.1647+48C>T
ENST00000504208.5:c.*475+48C>T	ENSP00000423585.1:n.*475+48C>T
ENST00000506491.5:c.1345+48C>T	ENSP00000424828.1:n.1345+48C>T
ENST00000506873.5:n.1114+48C>T
ENST00000508657.5:c.1495+48C>T	ENSP00000422099.1:n.1495+48C>T
ENST00000509694.1:n.432C>T
NM_001257194.1:c.1495+48C>T	NP_001244123.1:n.1495+48C>T
NM_001257195.1:c.1345+48C>T	NP_001244124.1:n.1345+48C>T
NM_017415.2:c.1591+48C>T	NP_059111.2:n.1591+48C>T
NM_017415.3:c.1591+48C>T MANE Select	NP_059111.2:n.1591+48C>T
NM_001257195.2:c.1345+48C>T	NP_001244124.1:n.1345+48C>T