Canonical Allele Identifier: CA7166644

Gene: KLHL28

Linked Data

• dbSNP Id: rs763226531
• ExAC: 14:45403617 A / C
• gnomAD v2: 14-45403617-A-C
• MyVariant Identifiers: chr14:g.45403617A>C (hg19) ; chr14:g.44934414A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.44934414A>C , CM000676.2:g.44934414A>C	GRCh38
NC_000014.8:g.45403617A>C , CM000676.1:g.45403617A>C	GRCh37
NC_000014.7:g.44473367A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396128.9:c.1044T>G MANE Select	ENSP00000379434.4:p.Thr348=
ENST00000355081.3:c.1086T>G	ENSP00000347193.2:p.Thr362=
ENST00000396128.8:c.1044T>G	ENSP00000379434.3:p.Thr348=
NM_001308112.1:c.1086T>G	NP_001295041.1:p.Thr362=
NM_017658.3:c.1044T>G	NP_060128.2:p.Thr348=
NM_017658.4:c.1044T>G	NP_060128.2:p.Thr348=
XM_005267770.2:c.1044T>G	XP_005267827.1:p.Thr348=
XM_011536847.1:c.1044T>G	XP_011535149.1:p.Thr348=
XM_011536848.1:c.1044T>G	XP_011535150.1:p.Thr348=
XM_011536849.1:c.1086T>G	XP_011535151.1:p.Thr362=
XM_005267770.4:c.1044T>G	XP_005267827.1:p.Thr348=
XM_011536847.3:c.1044T>G	XP_011535149.1:p.Thr348=
XM_011536849.2:c.1086T>G	XP_011535151.1:p.Thr362=
XM_024449635.1:c.1044T>G	XP_024305403.1:p.Thr348=
NM_001308112.2:c.1086T>G	NP_001295041.1:p.Thr362=
NM_017658.5:c.1044T>G MANE Select	NP_060128.2:p.Thr348=