Canonical Allele Identifier: CA563496617

Gene: KLHL3

Linked Data

• dbSNP Id: rs1480661516
• gnomAD v2: 5-136974881-C-T
• MyVariant Identifiers: chr5:g.136974881C>T (hg19) ; chr5:g.137639192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639192C>T , CM000667.2:g.137639192C>T	GRCh38
NC_000005.9:g.136974881C>T , CM000667.1:g.136974881C>T	GRCh37
NC_000005.8:g.137002780C>T	NCBI36
NG_032569.1:g.101899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1022-42G>A MANE Select	ENSP00000312397.4:n.1022-42G>A
ENST00000309755.8:c.1022-42G>A	ENSP00000312397.4:n.1022-42G>A
ENST00000502381.1:n.609-42G>A
ENST00000504208.5:c.*335-10755G>A	ENSP00000423585.1:n.*335-10755G>A
ENST00000505853.1:c.902-42G>A	ENSP00000426173.1:n.902-42G>A
ENST00000506491.5:c.776-42G>A	ENSP00000424828.1:n.776-42G>A
ENST00000506873.5:n.647-42G>A
ENST00000508657.5:c.926-42G>A	ENSP00000422099.1:n.926-42G>A
NM_001257194.1:c.926-42G>A	NP_001244123.1:n.926-42G>A
NM_001257195.1:c.776-42G>A	NP_001244124.1:n.776-42G>A
NM_017415.2:c.1022-42G>A	NP_059111.2:n.1022-42G>A
NM_017415.3:c.1022-42G>A MANE Select	NP_059111.2:n.1022-42G>A
NM_001257195.2:c.776-42G>A	NP_001244124.1:n.776-42G>A