Canonical Allele Identifier: CA366981619

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205549C>T (hg19) ; chr7:g.23165930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165930C>T , CM000669.2:g.23165930C>T	GRCh38
NC_000007.13:g.23205549C>T , CM000669.1:g.23205549C>T	GRCh37
NC_000007.12:g.23172074C>T	NCBI36
NG_016983.1:g.65197C>T
NG_016983.2:g.65197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1169C>T MANE Select	ENSP00000343273.4:p.Ser390Leu
ENST00000339077.9:c.1169C>T	ENSP00000343273.4:p.Ser390Leu
ENST00000409689.5:c.1025C>T	ENSP00000386263.1:p.Ser342Leu
ENST00000469576.1:n.56C>T
ENST00000521082.5:c.*1177C>T	ENSP00000430351.1:n.*1177C>T
NM_001031710.2:c.1169C>T	NP_001026880.2:p.Ser390Leu
NM_018846.4:c.1025C>T	NP_061334.4:p.Ser342Leu
NR_033328.1:n.1593C>T
XM_006715753.1:c.1208C>T	XP_006715816.1:p.Ser403Leu
XM_006715754.1:c.1142C>T	XP_006715817.1:p.Ser381Leu
XM_006715755.1:c.1142C>T	XP_006715818.1:p.Ser381Leu
XM_006715756.1:c.1064C>T	XP_006715819.1:p.Ser355Leu
XM_006715753.3:c.1208C>T	XP_006715816.1:p.Ser403Leu
XM_006715754.3:c.1142C>T	XP_006715817.1:p.Ser381Leu
XM_006715755.3:c.1142C>T	XP_006715818.1:p.Ser381Leu
XM_006715756.3:c.1064C>T	XP_006715819.1:p.Ser355Leu
XM_017012439.2:c.1103C>T	XP_016867928.1:p.Ser368Leu
NM_001031710.3:c.1169C>T MANE Select	NP_001026880.2:p.Ser390Leu
NM_018846.5:c.1025C>T	NP_061334.4:p.Ser342Leu
NR_033328.2:n.1542C>T