Canonical Allele Identifier: CA366981857

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23207545A>C (hg19) ; chr7:g.23167926A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23167926A>C , CM000669.2:g.23167926A>C	GRCh38
NC_000007.13:g.23207545A>C , CM000669.1:g.23207545A>C	GRCh37
NC_000007.12:g.23174070A>C	NCBI36
NG_016983.1:g.67193A>C
NG_016983.2:g.67193A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000339077.10:c.1268A>C MANE Select	ENSP00000343273.4:p.His423Pro
ENST00000339077.9:c.1268A>C	ENSP00000343273.4:p.His423Pro
ENST00000409689.5:c.1124A>C	ENSP00000386263.1:p.His375Pro
ENST00000469576.1:n.155A>C
ENST00000521082.5:c.*1276A>C	ENSP00000430351.1:n.*1276A>C
NM_001031710.2:c.1268A>C	NP_001026880.2:p.His423Pro
NM_018846.4:c.1124A>C	NP_061334.4:p.His375Pro
NR_033328.1:n.1692A>C
XM_006715753.1:c.1307A>C	XP_006715816.1:p.His436Pro
XM_006715754.1:c.1241A>C	XP_006715817.1:p.His414Pro
XM_006715755.1:c.1241A>C	XP_006715818.1:p.His414Pro
XM_006715756.1:c.1163A>C	XP_006715819.1:p.His388Pro
XM_006715753.3:c.1307A>C	XP_006715816.1:p.His436Pro
XM_006715754.3:c.1241A>C	XP_006715817.1:p.His414Pro
XM_006715755.3:c.1241A>C	XP_006715818.1:p.His414Pro
XM_006715756.3:c.1163A>C	XP_006715819.1:p.His388Pro
XM_017012439.2:c.1202A>C	XP_016867928.1:p.His401Pro
NM_001031710.3:c.1268A>C MANE Select	NP_001026880.2:p.His423Pro
NM_018846.5:c.1124A>C	NP_061334.4:p.His375Pro
NR_033328.2:n.1641A>C