Canonical Allele Identifier: CA4186329

Gene: KLHL7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23124794T>C , CM000669.2:g.23124794T>C	GRCh38
NC_000007.13:g.23164413T>C , CM000669.1:g.23164413T>C	GRCh37
NC_000007.12:g.23130938T>C	NCBI36
NG_016983.1:g.24061T>C
NG_016983.2:g.24061T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001031710.3:c.317+13T>C MANE Select	NP_001026880.2:n.317+13T>C
ENST00000339077.10:c.317+13T>C MANE Select	ENSP00000343273.4:n.317+13T>C
NM_001031710.2:c.317+13T>C	NP_001026880.2:n.317+13T>C
NM_001172428.1:c.317+13T>C	NP_001165899.1:n.317+13T>C
NM_001172428.2:c.317+13T>C	NP_001165899.1:n.317+13T>C
NM_018846.4:c.173+13T>C	NP_061334.4:n.173+13T>C
NM_018846.5:c.173+13T>C	NP_061334.4:n.173+13T>C
NR_033328.1:n.741+13T>C
NR_033328.2:n.690+13T>C
NR_033329.1:n.741+13T>C
NR_033329.2:n.690+13T>C
ENST00000322275.9:c.317+13T>C	ENSP00000323270.5:n.317+13T>C
ENST00000339077.9:c.317+13T>C	ENSP00000343273.4:n.317+13T>C
ENST00000409689.5:c.173+13T>C	ENSP00000386263.1:n.173+13T>C
ENST00000410047.1:c.251+13T>C	ENSP00000386999.1:n.251+13T>C
ENST00000459661.5:n.451+13T>C
ENST00000479288.5:n.390-15975T>C
ENST00000479700.1:n.336+13T>C
ENST00000491352.5:n.358+13T>C
ENST00000521082.5:c.*325+13T>C	ENSP00000430351.1:n.*325+13T>C
XM_006715753.1:c.317+13T>C	XP_006715816.1:n.317+13T>C
XM_006715753.3:c.317+13T>C	XP_006715816.1:n.317+13T>C
XM_006715754.1:c.251+13T>C	XP_006715817.1:n.251+13T>C
XM_006715754.3:c.251+13T>C	XP_006715817.1:n.251+13T>C
XM_006715755.1:c.251+13T>C	XP_006715818.1:n.251+13T>C
XM_006715755.3:c.251+13T>C	XP_006715818.1:n.251+13T>C
XM_006715756.1:c.173+13T>C	XP_006715819.1:n.173+13T>C
XM_006715756.3:c.173+13T>C	XP_006715819.1:n.173+13T>C
XM_006715757.2:c.317+13T>C	XP_006715820.1:n.317+13T>C
XM_006715757.4:c.317+13T>C	XP_006715820.1:n.317+13T>C
XM_017012439.2:c.251+13T>C	XP_016867928.1:n.251+13T>C
XM_017012440.2:c.317+13T>C	XP_016867929.1:n.317+13T>C
XM_017012441.2:c.251+13T>C	XP_016867930.1:n.251+13T>C