Canonical Allele Identifier: CA7166659
Gene: KLHL28 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs117295933

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.44934496C>A , CM000676.2:g.44934496C>A GRCh38
NC_000014.7:g.44473449C>A NCBI36
NC_000014.8:g.45403699C>A , CM000676.1:g.45403699C>A GRCh37

Transcript Alleles

HGVS Amino-acid change
ENST00000355081.3:c.1004G>T ENSP00000347193.2:p.Arg335Leu
ENST00000396128.8:c.962G>T ENSP00000379434.3:p.Arg321Leu
NM_001308112.1:c.1004G>T VV NP_001295041.1:p.Arg335Leu
NM_017658.3:c.962G>T VV
NM_017658.4:c.962G>T VV NP_060128.2:p.Arg321Leu
XM_005267770.2:c.962G>T XP_005267827.1:p.Arg321Leu
XM_011536847.1:c.962G>T XP_011535149.1:p.Arg321Leu
XM_011536848.1:c.962G>T XP_011535150.1:p.Arg321Leu
XM_011536849.1:c.1004G>T XP_011535151.1:p.Arg335Leu
XM_005267770.4:c.962G>T
XM_011536847.3:c.962G>T
XM_011536849.2:c.1004G>T
XM_024449635.1:c.962G>T XP_024305403.1:p.Arg321Leu