Canonical Allele Identifier: CA389558125

Gene: KLHL28

Linked Data

• dbSNP Id: rs1414285216
• gnomAD v2: 14-45403726-A-G
• MyVariant Identifiers: chr14:g.45403726A>G (hg19) ; chr14:g.44934523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.44934523A>G , CM000676.2:g.44934523A>G	GRCh38
NC_000014.8:g.45403726A>G , CM000676.1:g.45403726A>G	GRCh37
NC_000014.7:g.44473476A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396128.9:c.935T>C MANE Select	ENSP00000379434.4:p.Ile312Thr
ENST00000355081.3:c.977T>C	ENSP00000347193.2:p.Ile326Thr
ENST00000396128.8:c.935T>C	ENSP00000379434.3:p.Ile312Thr
NM_001308112.1:c.977T>C	NP_001295041.1:p.Ile326Thr
NM_017658.3:c.935T>C	NP_060128.2:p.Ile312Thr
NM_017658.4:c.935T>C	NP_060128.2:p.Ile312Thr
XM_005267770.2:c.935T>C	XP_005267827.1:p.Ile312Thr
XM_011536847.1:c.935T>C	XP_011535149.1:p.Ile312Thr
XM_011536848.1:c.935T>C	XP_011535150.1:p.Ile312Thr
XM_011536849.1:c.977T>C	XP_011535151.1:p.Ile326Thr
XM_005267770.4:c.935T>C	XP_005267827.1:p.Ile312Thr
XM_011536847.3:c.935T>C	XP_011535149.1:p.Ile312Thr
XM_011536849.2:c.977T>C	XP_011535151.1:p.Ile326Thr
XM_024449635.1:c.935T>C	XP_024305403.1:p.Ile312Thr
NM_001308112.2:c.977T>C	NP_001295041.1:p.Ile326Thr
NM_017658.5:c.935T>C MANE Select	NP_060128.2:p.Ile312Thr