Canonical Allele Identifier: CA338154585

Gene: KLHL21

Linked Data

• ClinVar Variation Id: 487795
• ClinVar RCV Id: RCV000577831
• dbSNP Id: rs1292721663
• MyVariant Identifiers: chr1:g.6662377C>G (hg19) ; chr1:g.6602317C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6602317C>G , CM000663.2:g.6602317C>G	GRCh38
NC_000001.10:g.6662377C>G , CM000663.1:g.6662377C>G	GRCh37
NC_000001.9:g.6584964C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377658.8:c.501G>C MANE Select	ENSP00000366886.4:p.Glu167Asp
ENST00000377663.3:c.501G>C	ENSP00000366891.3:p.Glu167Asp
ENST00000463043.1:c.-80-2865G>C	ENSP00000466479.1:n.-80-2865G>C
ENST00000467612.5:c.-80-2865G>C	ENSP00000466089.1:n.-80-2865G>C
ENST00000610898.1:c.-1447+1137G>C	ENSP00000480631.1:n.-1447+1137G>C
NM_014851.3:c.501G>C	NP_055666.2:p.Glu167Asp
XM_005263542.2:c.501G>C	XP_005263599.1:p.Glu167Asp
NM_001324309.1:c.501G>C	NP_001311238.1:p.Glu167Asp
NM_014851.4:c.501G>C MANE Select	NP_055666.2:p.Glu167Asp
NM_001324309.2:c.501G>C	NP_001311238.1:p.Glu167Asp