Canonical Allele Identifier: CA366981157

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205347T>C (hg19) ; chr7:g.23165728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165728T>C , CM000669.2:g.23165728T>C	GRCh38
NC_000007.13:g.23205347T>C , CM000669.1:g.23205347T>C	GRCh37
NC_000007.12:g.23171872T>C	NCBI36
NG_016983.1:g.64995T>C
NG_016983.2:g.64995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.967T>C MANE Select	ENSP00000343273.4:p.Phe323Leu
ENST00000339077.9:c.967T>C	ENSP00000343273.4:p.Phe323Leu
ENST00000409689.5:c.823T>C	ENSP00000386263.1:p.Phe275Leu
ENST00000521082.5:c.*975T>C	ENSP00000430351.1:n.*975T>C
NM_001031710.2:c.967T>C	NP_001026880.2:p.Phe323Leu
NM_018846.4:c.823T>C	NP_061334.4:p.Phe275Leu
NR_033328.1:n.1391T>C
XM_006715753.1:c.1006T>C	XP_006715816.1:p.Phe336Leu
XM_006715754.1:c.940T>C	XP_006715817.1:p.Phe314Leu
XM_006715755.1:c.940T>C	XP_006715818.1:p.Phe314Leu
XM_006715756.1:c.862T>C	XP_006715819.1:p.Phe288Leu
XM_006715753.3:c.1006T>C	XP_006715816.1:p.Phe336Leu
XM_006715754.3:c.940T>C	XP_006715817.1:p.Phe314Leu
XM_006715755.3:c.940T>C	XP_006715818.1:p.Phe314Leu
XM_006715756.3:c.862T>C	XP_006715819.1:p.Phe288Leu
XM_017012439.2:c.901T>C	XP_016867928.1:p.Phe301Leu
NM_001031710.3:c.967T>C MANE Select	NP_001026880.2:p.Phe323Leu
NM_018846.5:c.823T>C	NP_061334.4:p.Phe275Leu
NR_033328.2:n.1340T>C