Canonical Allele Identifier: CA1956570

Gene: KLHL41

Linked Data

• ClinVar Variation Id: 259912
• ClinVar RCV Id: RCV000247756 ; RCV000552325 ; RCV001709544
• dbSNP Id: rs139415849
• ExAC: 2:170367151 T / G
• gnomAD v2: 2-170367151-T-G
• gnomAD v3: 2-169510641-T-G
• gnomAD v4: 2-169510641-T-G
• MyVariant Identifiers: chr2:g.170367151T>G (hg19) ; chr2:g.169510641T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169510641T>G , CM000664.2:g.169510641T>G	GRCh38
NC_000002.11:g.170367151T>G , CM000664.1:g.170367151T>G	GRCh37
NC_000002.10:g.170075397T>G	NCBI36
NG_042051.1:g.5940T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284669.2:c.863T>G MANE Select	ENSP00000284669.1:p.Leu288Arg
ENST00000284669.1:c.863T>G	ENSP00000284669.1:p.Leu288Arg
ENST00000513963.1:c.925-3933T>G	ENSP00000424363.1:n.925-3933T>G
NM_006063.2:c.863T>G	NP_006054.2:p.Leu288Arg
NM_006063.3:c.863T>G MANE Select	NP_006054.2:p.Leu288Arg