Canonical Allele Identifier: CA366981555

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205519C>T (hg19) ; chr7:g.23165900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165900C>T , CM000669.2:g.23165900C>T	GRCh38
NC_000007.13:g.23205519C>T , CM000669.1:g.23205519C>T	GRCh37
NC_000007.12:g.23172044C>T	NCBI36
NG_016983.1:g.65167C>T
NG_016983.2:g.65167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1139C>T MANE Select	ENSP00000343273.4:p.Ala380Val
ENST00000339077.9:c.1139C>T	ENSP00000343273.4:p.Ala380Val
ENST00000409689.5:c.995C>T	ENSP00000386263.1:p.Ala332Val
ENST00000469576.1:n.26C>T
ENST00000521082.5:c.*1147C>T	ENSP00000430351.1:n.*1147C>T
NM_001031710.2:c.1139C>T	NP_001026880.2:p.Ala380Val
NM_018846.4:c.995C>T	NP_061334.4:p.Ala332Val
NR_033328.1:n.1563C>T
XM_006715753.1:c.1178C>T	XP_006715816.1:p.Ala393Val
XM_006715754.1:c.1112C>T	XP_006715817.1:p.Ala371Val
XM_006715755.1:c.1112C>T	XP_006715818.1:p.Ala371Val
XM_006715756.1:c.1034C>T	XP_006715819.1:p.Ala345Val
XM_006715753.3:c.1178C>T	XP_006715816.1:p.Ala393Val
XM_006715754.3:c.1112C>T	XP_006715817.1:p.Ala371Val
XM_006715755.3:c.1112C>T	XP_006715818.1:p.Ala371Val
XM_006715756.3:c.1034C>T	XP_006715819.1:p.Ala345Val
XM_017012439.2:c.1073C>T	XP_016867928.1:p.Ala358Val
NM_001031710.3:c.1139C>T MANE Select	NP_001026880.2:p.Ala380Val
NM_018846.5:c.995C>T	NP_061334.4:p.Ala332Val
NR_033328.2:n.1512C>T