Canonical Allele Identifier: CA2336625

Gene: KLHL40

Linked Data

• ClinVar Variation Id: 262644
• ClinVar RCV Id: RCV000247143 ; RCV000537539 ; RCV000992256
• dbSNP Id: rs35033264
• ExAC: 3:42727434 A / G
• gnomAD v2: 3-42727434-A-G
• gnomAD v3: 3-42685942-A-G
• gnomAD v4: 3-42685942-A-G
• MyVariant Identifiers: chr3:g.42727434A>G (hg19) ; chr3:g.42685942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.42685942A>G , CM000665.2:g.42685942A>G	GRCh38
NC_000003.11:g.42727434A>G , CM000665.1:g.42727434A>G	GRCh37
NC_000003.10:g.42702438A>G	NCBI36
NG_033035.1:g.5424A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287777.5:c.324A>G MANE Select	ENSP00000287777.4:p.Ala108=
ENST00000287777.4:c.324A>G	ENSP00000287777.4:p.Ala108=
NM_152393.3:c.324A>G	NP_689606.2:p.Ala108=
XM_005264866.2:c.324A>G	XP_005264923.1:p.Ala108=
NM_152393.4:c.324A>G MANE Select	NP_689606.2:p.Ala108=