Canonical Allele Identifier: CA446561579
Gene: KLHL3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.136975658A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639969A>G , CM000667.2:g.137639969A>G GRCh38
NC_000005.9:g.136975658A>G , CM000667.1:g.136975658A>G GRCh37
NC_000005.8:g.137003557A>G NCBI36
NG_032569.1:g.101122T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309755.9:c.912T>C MANE Select ENSP00000312397.4:p.Ile304=
ENST00000309755.8:c.912T>C ENSP00000312397.4:p.Ile304=
ENST00000502381.1:n.499T>C
ENST00000504208.5:c.*335-11532T>C ENSP00000423585.1:n.*335-11532T>C
ENST00000505853.1:c.792T>C ENSP00000426173.1:p.Ile264=
ENST00000506491.5:c.666T>C ENSP00000424828.1:p.Ile222=
ENST00000506873.5:n.537T>C
ENST00000508657.5:c.816T>C ENSP00000422099.1:p.Ile272=
NM_001257194.1:c.816T>C NP_001244123.1:p.Ile272=
NM_001257195.1:c.666T>C NP_001244124.1:p.Ile222=
NM_017415.2:c.912T>C NP_059111.2:p.Ile304=
NM_017415.3:c.912T>C MANE Select NP_059111.2:p.Ile304=
NM_001257195.2:c.666T>C NP_001244124.1:p.Ile222=