Canonical Allele Identifier: CA366981845

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23207540C>G (hg19) ; chr7:g.23167921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23167921C>G , CM000669.2:g.23167921C>G	GRCh38
NC_000007.13:g.23207540C>G , CM000669.1:g.23207540C>G	GRCh37
NC_000007.12:g.23174065C>G	NCBI36
NG_016983.1:g.67188C>G
NG_016983.2:g.67188C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000339077.10:c.1263C>G MANE Select	ENSP00000343273.4:p.Cys421Trp
ENST00000339077.9:c.1263C>G	ENSP00000343273.4:p.Cys421Trp
ENST00000409689.5:c.1119C>G	ENSP00000386263.1:p.Cys373Trp
ENST00000469576.1:n.150C>G
ENST00000521082.5:c.*1271C>G	ENSP00000430351.1:n.*1271C>G
NM_001031710.2:c.1263C>G	NP_001026880.2:p.Cys421Trp
NM_018846.4:c.1119C>G	NP_061334.4:p.Cys373Trp
NR_033328.1:n.1687C>G
XM_006715753.1:c.1302C>G	XP_006715816.1:p.Cys434Trp
XM_006715754.1:c.1236C>G	XP_006715817.1:p.Cys412Trp
XM_006715755.1:c.1236C>G	XP_006715818.1:p.Cys412Trp
XM_006715756.1:c.1158C>G	XP_006715819.1:p.Cys386Trp
XM_006715753.3:c.1302C>G	XP_006715816.1:p.Cys434Trp
XM_006715754.3:c.1236C>G	XP_006715817.1:p.Cys412Trp
XM_006715755.3:c.1236C>G	XP_006715818.1:p.Cys412Trp
XM_006715756.3:c.1158C>G	XP_006715819.1:p.Cys386Trp
XM_017012439.2:c.1197C>G	XP_016867928.1:p.Cys399Trp
NM_001031710.3:c.1263C>G MANE Select	NP_001026880.2:p.Cys421Trp
NM_018846.5:c.1119C>G	NP_061334.4:p.Cys373Trp
NR_033328.2:n.1636C>G