Canonical Allele Identifier: CA361048986

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136975644T>A (hg19) ; chr5:g.137639955T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639955T>A , CM000667.2:g.137639955T>A	GRCh38
NC_000005.9:g.136975644T>A , CM000667.1:g.136975644T>A	GRCh37
NC_000005.8:g.137003543T>A	NCBI36
NG_032569.1:g.101136A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.926A>T MANE Select	ENSP00000312397.4:p.Gln309Leu
ENST00000309755.8:c.926A>T	ENSP00000312397.4:p.Gln309Leu
ENST00000502381.1:n.513A>T
ENST00000504208.5:c.*335-11518A>T	ENSP00000423585.1:n.*335-11518A>T
ENST00000505853.1:c.806A>T	ENSP00000426173.1:p.Gln269Leu
ENST00000506491.5:c.680A>T	ENSP00000424828.1:p.Gln227Leu
ENST00000506873.5:n.551A>T
ENST00000508657.5:c.830A>T	ENSP00000422099.1:p.Gln277Leu
NM_001257194.1:c.830A>T	NP_001244123.1:p.Gln277Leu
NM_001257195.1:c.680A>T	NP_001244124.1:p.Gln227Leu
NM_017415.2:c.926A>T	NP_059111.2:p.Gln309Leu
NM_017415.3:c.926A>T MANE Select	NP_059111.2:p.Gln309Leu
NM_001257195.2:c.680A>T	NP_001244124.1:p.Gln227Leu