Canonical Allele Identifier: CA128104323

Gene: KLHL3

Linked Data

• dbSNP Id: rs201023154
• gnomAD v2: 5-136975332-G-A
• gnomAD v3: 5-137639643-G-A
• gnomAD v4: 5-137639643-G-A
• MyVariant Identifiers: chr5:g.136975332G>A (hg19) ; chr5:g.137639643G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639643G>A , CM000667.2:g.137639643G>A	GRCh38
NC_000005.9:g.136975332G>A , CM000667.1:g.136975332G>A	GRCh37
NC_000005.8:g.137003231G>A	NCBI36
NG_032569.1:g.101448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1021+217C>T MANE Select	ENSP00000312397.4:n.1021+217C>T
ENST00000309755.8:c.1021+217C>T	ENSP00000312397.4:n.1021+217C>T
ENST00000502381.1:n.608+217C>T
ENST00000504208.5:c.*335-11206C>T	ENSP00000423585.1:n.*335-11206C>T
ENST00000505853.1:c.901+217C>T	ENSP00000426173.1:n.901+217C>T
ENST00000506491.5:c.775+217C>T	ENSP00000424828.1:n.775+217C>T
ENST00000506873.5:n.646+217C>T
ENST00000508657.5:c.925+217C>T	ENSP00000422099.1:n.925+217C>T
NM_001257194.1:c.925+217C>T	NP_001244123.1:n.925+217C>T
NM_001257195.1:c.775+217C>T	NP_001244124.1:n.775+217C>T
NM_017415.2:c.1021+217C>T	NP_059111.2:n.1021+217C>T
NM_017415.3:c.1021+217C>T MANE Select	NP_059111.2:n.1021+217C>T
NM_001257195.2:c.775+217C>T	NP_001244124.1:n.775+217C>T