Canonical Allele Identifier: CA366981288

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205402T>C (hg19) ; chr7:g.23165783T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165783T>C , CM000669.2:g.23165783T>C	GRCh38
NC_000007.13:g.23205402T>C , CM000669.1:g.23205402T>C	GRCh37
NC_000007.12:g.23171927T>C	NCBI36
NG_016983.1:g.65050T>C
NG_016983.2:g.65050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1022T>C MANE Select	ENSP00000343273.4:p.Leu341Ser
ENST00000339077.9:c.1022T>C	ENSP00000343273.4:p.Leu341Ser
ENST00000409689.5:c.878T>C	ENSP00000386263.1:p.Leu293Ser
ENST00000521082.5:c.*1030T>C	ENSP00000430351.1:n.*1030T>C
NM_001031710.2:c.1022T>C	NP_001026880.2:p.Leu341Ser
NM_018846.4:c.878T>C	NP_061334.4:p.Leu293Ser
NR_033328.1:n.1446T>C
XM_006715753.1:c.1061T>C	XP_006715816.1:p.Leu354Ser
XM_006715754.1:c.995T>C	XP_006715817.1:p.Leu332Ser
XM_006715755.1:c.995T>C	XP_006715818.1:p.Leu332Ser
XM_006715756.1:c.917T>C	XP_006715819.1:p.Leu306Ser
XM_006715753.3:c.1061T>C	XP_006715816.1:p.Leu354Ser
XM_006715754.3:c.995T>C	XP_006715817.1:p.Leu332Ser
XM_006715755.3:c.995T>C	XP_006715818.1:p.Leu332Ser
XM_006715756.3:c.917T>C	XP_006715819.1:p.Leu306Ser
XM_017012439.2:c.956T>C	XP_016867928.1:p.Leu319Ser
NM_001031710.3:c.1022T>C MANE Select	NP_001026880.2:p.Leu341Ser
NM_018846.5:c.878T>C	NP_061334.4:p.Leu293Ser
NR_033328.2:n.1395T>C