Canonical Allele Identifier: CA454140922

Gene: KLHL7

Linked Data

• dbSNP Id: rs979725863
• gnomAD v2: 7-23205370-A-T
• gnomAD v4: 7-23165751-A-T
• MyVariant Identifiers: chr7:g.23205370A>T (hg19) ; chr7:g.23165751A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165751A>T , CM000669.2:g.23165751A>T	GRCh38
NC_000007.13:g.23205370A>T , CM000669.1:g.23205370A>T	GRCh37
NC_000007.12:g.23171895A>T	NCBI36
NG_016983.1:g.65018A>T
NG_016983.2:g.65018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.990A>T MANE Select	ENSP00000343273.4:p.Ala330=
ENST00000339077.9:c.990A>T	ENSP00000343273.4:p.Ala330=
ENST00000409689.5:c.846A>T	ENSP00000386263.1:p.Ala282=
ENST00000521082.5:c.*998A>T	ENSP00000430351.1:n.*998A>T
NM_001031710.2:c.990A>T	NP_001026880.2:p.Ala330=
NM_018846.4:c.846A>T	NP_061334.4:p.Ala282=
NR_033328.1:n.1414A>T
XM_006715753.1:c.1029A>T	XP_006715816.1:p.Ala343=
XM_006715754.1:c.963A>T	XP_006715817.1:p.Ala321=
XM_006715755.1:c.963A>T	XP_006715818.1:p.Ala321=
XM_006715756.1:c.885A>T	XP_006715819.1:p.Ala295=
XM_006715753.3:c.1029A>T	XP_006715816.1:p.Ala343=
XM_006715754.3:c.963A>T	XP_006715817.1:p.Ala321=
XM_006715755.3:c.963A>T	XP_006715818.1:p.Ala321=
XM_006715756.3:c.885A>T	XP_006715819.1:p.Ala295=
XM_017012439.2:c.924A>T	XP_016867928.1:p.Ala308=
NM_001031710.3:c.990A>T MANE Select	NP_001026880.2:p.Ala330=
NM_018846.5:c.846A>T	NP_061334.4:p.Ala282=
NR_033328.2:n.1363A>T