Canonical Allele Identifier: CA389557689

Gene: KLHL28

Linked Data

• dbSNP Id: rs1249297509
• gnomAD v2: 14-45403619-T-C
• gnomAD v4: 14-44934416-T-C
• MyVariant Identifiers: chr14:g.45403619T>C (hg19) ; chr14:g.44934416T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.44934416T>C , CM000676.2:g.44934416T>C	GRCh38
NC_000014.8:g.45403619T>C , CM000676.1:g.45403619T>C	GRCh37
NC_000014.7:g.44473369T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396128.9:c.1042A>G MANE Select	ENSP00000379434.4:p.Thr348Ala
ENST00000355081.3:c.1084A>G	ENSP00000347193.2:p.Thr362Ala
ENST00000396128.8:c.1042A>G	ENSP00000379434.3:p.Thr348Ala
NM_001308112.1:c.1084A>G	NP_001295041.1:p.Thr362Ala
NM_017658.3:c.1042A>G	NP_060128.2:p.Thr348Ala
NM_017658.4:c.1042A>G	NP_060128.2:p.Thr348Ala
XM_005267770.2:c.1042A>G	XP_005267827.1:p.Thr348Ala
XM_011536847.1:c.1042A>G	XP_011535149.1:p.Thr348Ala
XM_011536848.1:c.1042A>G	XP_011535150.1:p.Thr348Ala
XM_011536849.1:c.1084A>G	XP_011535151.1:p.Thr362Ala
XM_005267770.4:c.1042A>G	XP_005267827.1:p.Thr348Ala
XM_011536847.3:c.1042A>G	XP_011535149.1:p.Thr348Ala
XM_011536849.2:c.1084A>G	XP_011535151.1:p.Thr362Ala
XM_024449635.1:c.1042A>G	XP_024305403.1:p.Thr348Ala
NM_001308112.2:c.1084A>G	NP_001295041.1:p.Thr362Ala
NM_017658.5:c.1042A>G MANE Select	NP_060128.2:p.Thr348Ala