Canonical Allele Identifier: CA366981579

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205530A>T (hg19) ; chr7:g.23165911A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165911A>T , CM000669.2:g.23165911A>T	GRCh38
NC_000007.13:g.23205530A>T , CM000669.1:g.23205530A>T	GRCh37
NC_000007.12:g.23172055A>T	NCBI36
NG_016983.1:g.65178A>T
NG_016983.2:g.65178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1150A>T MANE Select	ENSP00000343273.4:p.Ile384Phe
ENST00000339077.9:c.1150A>T	ENSP00000343273.4:p.Ile384Phe
ENST00000409689.5:c.1006A>T	ENSP00000386263.1:p.Ile336Phe
ENST00000469576.1:n.37A>T
ENST00000521082.5:c.*1158A>T	ENSP00000430351.1:n.*1158A>T
NM_001031710.2:c.1150A>T	NP_001026880.2:p.Ile384Phe
NM_018846.4:c.1006A>T	NP_061334.4:p.Ile336Phe
NR_033328.1:n.1574A>T
XM_006715753.1:c.1189A>T	XP_006715816.1:p.Ile397Phe
XM_006715754.1:c.1123A>T	XP_006715817.1:p.Ile375Phe
XM_006715755.1:c.1123A>T	XP_006715818.1:p.Ile375Phe
XM_006715756.1:c.1045A>T	XP_006715819.1:p.Ile349Phe
XM_006715753.3:c.1189A>T	XP_006715816.1:p.Ile397Phe
XM_006715754.3:c.1123A>T	XP_006715817.1:p.Ile375Phe
XM_006715755.3:c.1123A>T	XP_006715818.1:p.Ile375Phe
XM_006715756.3:c.1045A>T	XP_006715819.1:p.Ile349Phe
XM_017012439.2:c.1084A>T	XP_016867928.1:p.Ile362Phe
NM_001031710.3:c.1150A>T MANE Select	NP_001026880.2:p.Ile384Phe
NM_018846.5:c.1006A>T	NP_061334.4:p.Ile336Phe
NR_033328.2:n.1523A>T