Canonical Allele Identifier: CA4186555

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1103816
• ClinVar RCV Id: RCV001427635
• dbSNP Id: rs764970364
• ExAC: 7:23205564 A / G
• gnomAD v2: 7-23205564-A-G
• gnomAD v3: 7-23165945-A-G
• gnomAD v4: 7-23165945-A-G
• MyVariant Identifiers: chr7:g.23205564A>G (hg19) ; chr7:g.23165945A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165945A>G , CM000669.2:g.23165945A>G	GRCh38
NC_000007.13:g.23205564A>G , CM000669.1:g.23205564A>G	GRCh37
NC_000007.12:g.23172089A>G	NCBI36
NG_016983.1:g.65212A>G
NG_016983.2:g.65212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+7A>G MANE Select	ENSP00000343273.4:n.1177+7A>G
ENST00000339077.9:c.1177+7A>G	ENSP00000343273.4:n.1177+7A>G
ENST00000409689.5:c.1033+7A>G	ENSP00000386263.1:n.1033+7A>G
ENST00000469576.1:n.64+7A>G
ENST00000521082.5:c.*1185+7A>G	ENSP00000430351.1:n.*1185+7A>G
NM_001031710.2:c.1177+7A>G	NP_001026880.2:n.1177+7A>G
NM_018846.4:c.1033+7A>G	NP_061334.4:n.1033+7A>G
NR_033328.1:n.1601+7A>G
XM_006715753.1:c.1216+7A>G	XP_006715816.1:n.1216+7A>G
XM_006715754.1:c.1150+7A>G	XP_006715817.1:n.1150+7A>G
XM_006715755.1:c.1150+7A>G	XP_006715818.1:n.1150+7A>G
XM_006715756.1:c.1072+7A>G	XP_006715819.1:n.1072+7A>G
XM_006715753.3:c.1216+7A>G	XP_006715816.1:n.1216+7A>G
XM_006715754.3:c.1150+7A>G	XP_006715817.1:n.1150+7A>G
XM_006715755.3:c.1150+7A>G	XP_006715818.1:n.1150+7A>G
XM_006715756.3:c.1072+7A>G	XP_006715819.1:n.1072+7A>G
XM_017012439.2:c.1111+7A>G	XP_016867928.1:n.1111+7A>G
NM_001031710.3:c.1177+7A>G MANE Select	NP_001026880.2:n.1177+7A>G
NM_018846.5:c.1033+7A>G	NP_061334.4:n.1033+7A>G
NR_033328.2:n.1550+7A>G