Canonical Allele Identifier: CA3422324

Gene: KLHL3

Linked Data

• dbSNP Id: rs763334990
• ExAC: 5:136975571 A / G
• gnomAD v2: 5-136975571-A-G
• gnomAD v4: 5-137639882-A-G
• MyVariant Identifiers: chr5:g.136975571A>G (hg19) ; chr5:g.137639882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639882A>G , CM000667.2:g.137639882A>G	GRCh38
NC_000005.9:g.136975571A>G , CM000667.1:g.136975571A>G	GRCh37
NC_000005.8:g.137003470A>G	NCBI36
NG_032569.1:g.101209T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.999T>C MANE Select	ENSP00000312397.4:p.Leu333=
ENST00000309755.8:c.999T>C	ENSP00000312397.4:p.Leu333=
ENST00000502381.1:n.586T>C
ENST00000504208.5:c.*335-11445T>C	ENSP00000423585.1:n.*335-11445T>C
ENST00000505853.1:c.879T>C	ENSP00000426173.1:p.Leu293=
ENST00000506491.5:c.753T>C	ENSP00000424828.1:p.Leu251=
ENST00000506873.5:n.624T>C
ENST00000508657.5:c.903T>C	ENSP00000422099.1:p.Leu301=
NM_001257194.1:c.903T>C	NP_001244123.1:p.Leu301=
NM_001257195.1:c.753T>C	NP_001244124.1:p.Leu251=
NM_017415.2:c.999T>C	NP_059111.2:p.Leu333=
NM_017415.3:c.999T>C MANE Select	NP_059111.2:p.Leu333=
NM_001257195.2:c.753T>C	NP_001244124.1:p.Leu251=