Canonical Allele Identifier: CA259586736

Gene: KLHL28

Linked Data

• dbSNP Id: rs544393993
• gnomAD v2: 14-45403718-C-A
• gnomAD v3: 14-44934515-C-A
• gnomAD v4: 14-44934515-C-A
• MyVariant Identifiers: chr14:g.45403718C>A (hg19) ; chr14:g.44934515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.44934515C>A , CM000676.2:g.44934515C>A	GRCh38
NC_000014.8:g.45403718C>A , CM000676.1:g.45403718C>A	GRCh37
NC_000014.7:g.44473468C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396128.9:c.943G>T MANE Select	ENSP00000379434.4:p.Ala315Ser
ENST00000355081.3:c.985G>T	ENSP00000347193.2:p.Ala329Ser
ENST00000396128.8:c.943G>T	ENSP00000379434.3:p.Ala315Ser
NM_001308112.1:c.985G>T	NP_001295041.1:p.Ala329Ser
NM_017658.3:c.943G>T	NP_060128.2:p.Ala315Ser
NM_017658.4:c.943G>T	NP_060128.2:p.Ala315Ser
XM_005267770.2:c.943G>T	XP_005267827.1:p.Ala315Ser
XM_011536847.1:c.943G>T	XP_011535149.1:p.Ala315Ser
XM_011536848.1:c.943G>T	XP_011535150.1:p.Ala315Ser
XM_011536849.1:c.985G>T	XP_011535151.1:p.Ala329Ser
XM_005267770.4:c.943G>T	XP_005267827.1:p.Ala315Ser
XM_011536847.3:c.943G>T	XP_011535149.1:p.Ala315Ser
XM_011536849.2:c.985G>T	XP_011535151.1:p.Ala329Ser
XM_024449635.1:c.943G>T	XP_024305403.1:p.Ala315Ser
NM_001308112.2:c.985G>T	NP_001295041.1:p.Ala329Ser
NM_017658.5:c.943G>T MANE Select	NP_060128.2:p.Ala315Ser