Canonical Allele Identifier: CA366981178

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205355A>C (hg19) ; chr7:g.23165736A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165736A>C , CM000669.2:g.23165736A>C	GRCh38
NC_000007.13:g.23205355A>C , CM000669.1:g.23205355A>C	GRCh37
NC_000007.12:g.23171880A>C	NCBI36
NG_016983.1:g.65003A>C
NG_016983.2:g.65003A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.975A>C MANE Select	ENSP00000343273.4:p.Lys325Asn
ENST00000339077.9:c.975A>C	ENSP00000343273.4:p.Lys325Asn
ENST00000409689.5:c.831A>C	ENSP00000386263.1:p.Lys277Asn
ENST00000521082.5:c.*983A>C	ENSP00000430351.1:n.*983A>C
NM_001031710.2:c.975A>C	NP_001026880.2:p.Lys325Asn
NM_018846.4:c.831A>C	NP_061334.4:p.Lys277Asn
NR_033328.1:n.1399A>C
XM_006715753.1:c.1014A>C	XP_006715816.1:p.Lys338Asn
XM_006715754.1:c.948A>C	XP_006715817.1:p.Lys316Asn
XM_006715755.1:c.948A>C	XP_006715818.1:p.Lys316Asn
XM_006715756.1:c.870A>C	XP_006715819.1:p.Lys290Asn
XM_006715753.3:c.1014A>C	XP_006715816.1:p.Lys338Asn
XM_006715754.3:c.948A>C	XP_006715817.1:p.Lys316Asn
XM_006715755.3:c.948A>C	XP_006715818.1:p.Lys316Asn
XM_006715756.3:c.870A>C	XP_006715819.1:p.Lys290Asn
XM_017012439.2:c.909A>C	XP_016867928.1:p.Lys303Asn
NM_001031710.3:c.975A>C MANE Select	NP_001026880.2:p.Lys325Asn
NM_018846.5:c.831A>C	NP_061334.4:p.Lys277Asn
NR_033328.2:n.1348A>C