Canonical Allele Identifier: CA446561175
Gene: KLHL3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.136974829G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639140G>A , CM000667.2:g.137639140G>A GRCh38
NC_000005.9:g.136974829G>A , CM000667.1:g.136974829G>A GRCh37
NC_000005.8:g.137002728G>A NCBI36
NG_032569.1:g.101951C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1032C>T MANE Select ENSP00000312397.4:p.Phe344=
ENST00000309755.8:c.1032C>T ENSP00000312397.4:p.Phe344=
ENST00000502381.1:n.619C>T
ENST00000504208.5:c.*335-10703C>T ENSP00000423585.1:n.*335-10703C>T
ENST00000505853.1:c.912C>T ENSP00000426173.1:p.Phe304=
ENST00000506491.5:c.786C>T ENSP00000424828.1:p.Phe262=
ENST00000506873.5:n.657C>T
ENST00000508657.5:c.936C>T ENSP00000422099.1:p.Phe312=
NM_001257194.1:c.936C>T NP_001244123.1:p.Phe312=
NM_001257195.1:c.786C>T NP_001244124.1:p.Phe262=
NM_017415.2:c.1032C>T NP_059111.2:p.Phe344=
NM_017415.3:c.1032C>T MANE Select NP_059111.2:p.Phe344=
NM_001257195.2:c.786C>T NP_001244124.1:p.Phe262=