Canonical Allele Identifier: CA454140941

Gene: KLHL7

Linked Data

• dbSNP Id: rs1282130801
• gnomAD v2: 7-23205391-A-G
• gnomAD v3: 7-23165772-A-G
• gnomAD v4: 7-23165772-A-G
• MyVariant Identifiers: chr7:g.23205391A>G (hg19) ; chr7:g.23165772A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165772A>G , CM000669.2:g.23165772A>G	GRCh38
NC_000007.13:g.23205391A>G , CM000669.1:g.23205391A>G	GRCh37
NC_000007.12:g.23171916A>G	NCBI36
NG_016983.1:g.65039A>G
NG_016983.2:g.65039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1011A>G MANE Select	ENSP00000343273.4:p.Val337=
ENST00000339077.9:c.1011A>G	ENSP00000343273.4:p.Val337=
ENST00000409689.5:c.867A>G	ENSP00000386263.1:p.Val289=
ENST00000521082.5:c.*1019A>G	ENSP00000430351.1:n.*1019A>G
NM_001031710.2:c.1011A>G	NP_001026880.2:p.Val337=
NM_018846.4:c.867A>G	NP_061334.4:p.Val289=
NR_033328.1:n.1435A>G
XM_006715753.1:c.1050A>G	XP_006715816.1:p.Val350=
XM_006715754.1:c.984A>G	XP_006715817.1:p.Val328=
XM_006715755.1:c.984A>G	XP_006715818.1:p.Val328=
XM_006715756.1:c.906A>G	XP_006715819.1:p.Val302=
XM_006715753.3:c.1050A>G	XP_006715816.1:p.Val350=
XM_006715754.3:c.984A>G	XP_006715817.1:p.Val328=
XM_006715755.3:c.984A>G	XP_006715818.1:p.Val328=
XM_006715756.3:c.906A>G	XP_006715819.1:p.Val302=
XM_017012439.2:c.945A>G	XP_016867928.1:p.Val315=
NM_001031710.3:c.1011A>G MANE Select	NP_001026880.2:p.Val337=
NM_018846.5:c.867A>G	NP_061334.4:p.Val289=
NR_033328.2:n.1384A>G