Canonical Allele Identifier: CA366981659

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23207460T>G (hg19) ; chr7:g.23167841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23167841T>G , CM000669.2:g.23167841T>G	GRCh38
NC_000007.13:g.23207460T>G , CM000669.1:g.23207460T>G	GRCh37
NC_000007.12:g.23173985T>G	NCBI36
NG_016983.1:g.67108T>G
NG_016983.2:g.67108T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1183T>G MANE Select	ENSP00000343273.4:p.Ser395Ala
ENST00000339077.9:c.1183T>G	ENSP00000343273.4:p.Ser395Ala
ENST00000409689.5:c.1039T>G	ENSP00000386263.1:p.Ser347Ala
ENST00000469576.1:n.70T>G
ENST00000521082.5:c.*1191T>G	ENSP00000430351.1:n.*1191T>G
NM_001031710.2:c.1183T>G	NP_001026880.2:p.Ser395Ala
NM_018846.4:c.1039T>G	NP_061334.4:p.Ser347Ala
NR_033328.1:n.1607T>G
XM_006715753.1:c.1222T>G	XP_006715816.1:p.Ser408Ala
XM_006715754.1:c.1156T>G	XP_006715817.1:p.Ser386Ala
XM_006715755.1:c.1156T>G	XP_006715818.1:p.Ser386Ala
XM_006715756.1:c.1078T>G	XP_006715819.1:p.Ser360Ala
XM_006715753.3:c.1222T>G	XP_006715816.1:p.Ser408Ala
XM_006715754.3:c.1156T>G	XP_006715817.1:p.Ser386Ala
XM_006715755.3:c.1156T>G	XP_006715818.1:p.Ser386Ala
XM_006715756.3:c.1078T>G	XP_006715819.1:p.Ser360Ala
XM_017012439.2:c.1117T>G	XP_016867928.1:p.Ser373Ala
NM_001031710.3:c.1183T>G MANE Select	NP_001026880.2:p.Ser395Ala
NM_018846.5:c.1039T>G	NP_061334.4:p.Ser347Ala
NR_033328.2:n.1556T>G