Canonical Allele Identifier: CA454140911

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165740-A-C
• MyVariant Identifiers: chr7:g.23205359A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165740A>C , CM000669.2:g.23165740A>C	GRCh38
NC_000007.13:g.23205359A>C , CM000669.1:g.23205359A>C	GRCh37
NC_000007.12:g.23171884A>C	NCBI36
NG_016983.1:g.65007A>C
NG_016983.2:g.65007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.979A>C MANE Select	ENSP00000343273.4:p.Arg327=
ENST00000339077.9:c.979A>C	ENSP00000343273.4:p.Arg327=
ENST00000409689.5:c.835A>C	ENSP00000386263.1:p.Arg279=
ENST00000521082.5:c.*987A>C	ENSP00000430351.1:n.*987A>C
NM_001031710.2:c.979A>C	NP_001026880.2:p.Arg327=
NM_018846.4:c.835A>C	NP_061334.4:p.Arg279=
NR_033328.1:n.1403A>C
XM_006715753.1:c.1018A>C	XP_006715816.1:p.Arg340=
XM_006715754.1:c.952A>C	XP_006715817.1:p.Arg318=
XM_006715755.1:c.952A>C	XP_006715818.1:p.Arg318=
XM_006715756.1:c.874A>C	XP_006715819.1:p.Arg292=
XM_006715753.3:c.1018A>C	XP_006715816.1:p.Arg340=
XM_006715754.3:c.952A>C	XP_006715817.1:p.Arg318=
XM_006715755.3:c.952A>C	XP_006715818.1:p.Arg318=
XM_006715756.3:c.874A>C	XP_006715819.1:p.Arg292=
XM_017012439.2:c.913A>C	XP_016867928.1:p.Arg305=
NM_001031710.3:c.979A>C MANE Select	NP_001026880.2:p.Arg327=
NM_018846.5:c.835A>C	NP_061334.4:p.Arg279=
NR_033328.2:n.1352A>C