Canonical Allele Identifier: CA128104048

Gene: KLHL3

Linked Data

• dbSNP Id: rs970316710
• gnomAD v3: 5-137639196-A-G
• gnomAD v4: 5-137639196-A-G
• MyVariant Identifiers: chr5:g.136974885A>G (hg19) ; chr5:g.137639196A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639196A>G , CM000667.2:g.137639196A>G	GRCh38
NC_000005.9:g.136974885A>G , CM000667.1:g.136974885A>G	GRCh37
NC_000005.8:g.137002784A>G	NCBI36
NG_032569.1:g.101895T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1022-46T>C MANE Select	ENSP00000312397.4:n.1022-46T>C
ENST00000309755.8:c.1022-46T>C	ENSP00000312397.4:n.1022-46T>C
ENST00000502381.1:n.609-46T>C
ENST00000504208.5:c.*335-10759T>C	ENSP00000423585.1:n.*335-10759T>C
ENST00000505853.1:c.902-46T>C	ENSP00000426173.1:n.902-46T>C
ENST00000506491.5:c.776-46T>C	ENSP00000424828.1:n.776-46T>C
ENST00000506873.5:n.647-46T>C
ENST00000508657.5:c.926-46T>C	ENSP00000422099.1:n.926-46T>C
NM_001257194.1:c.926-46T>C	NP_001244123.1:n.926-46T>C
NM_001257195.1:c.776-46T>C	NP_001244124.1:n.776-46T>C
NM_017415.2:c.1022-46T>C	NP_059111.2:n.1022-46T>C
NM_017415.3:c.1022-46T>C MANE Select	NP_059111.2:n.1022-46T>C
NM_001257195.2:c.776-46T>C	NP_001244124.1:n.776-46T>C