Canonical Allele Identifier: CA128103847

Gene: KLHL3

Linked Data

• dbSNP Id: rs75467994
• MyVariant Identifiers: chr5:g.136974723T>G (hg19) ; chr5:g.137639034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639034T>G , CM000667.2:g.137639034T>G	GRCh38
NC_000005.9:g.136974723T>G , CM000667.1:g.136974723T>G	GRCh37
NC_000005.8:g.137002622T>G	NCBI36
NG_032569.1:g.102057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1138A>C MANE Select	ENSP00000312397.4:p.Met380Leu
ENST00000309755.8:c.1138A>C	ENSP00000312397.4:p.Met380Leu
ENST00000502381.1:n.725A>C
ENST00000504208.5:c.*335-10597A>C	ENSP00000423585.1:n.*335-10597A>C
ENST00000505853.1:c.1018A>C	ENSP00000426173.1:p.Met340Leu
ENST00000506491.5:c.892A>C	ENSP00000424828.1:p.Met298Leu
ENST00000506873.5:n.763A>C
ENST00000508657.5:c.1042A>C	ENSP00000422099.1:p.Met348Leu
NM_001257194.1:c.1042A>C	NP_001244123.1:p.Met348Leu
NM_001257195.1:c.892A>C	NP_001244124.1:p.Met298Leu
NM_017415.2:c.1138A>C	NP_059111.2:p.Met380Leu
NM_017415.3:c.1138A>C MANE Select	NP_059111.2:p.Met380Leu
NM_001257195.2:c.892A>C	NP_001244124.1:p.Met298Leu