Canonical Allele Identifier: CA4186553

Gene: KLHL7

Linked Data

• dbSNP Id: rs754161005
• ExAC: 7:23205560 A / G
• gnomAD v2: 7-23205560-A-G
• MyVariant Identifiers: chr7:g.23205560A>G (hg19) ; chr7:g.23165941A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165941A>G , CM000669.2:g.23165941A>G	GRCh38
NC_000007.13:g.23205560A>G , CM000669.1:g.23205560A>G	GRCh37
NC_000007.12:g.23172085A>G	NCBI36
NG_016983.1:g.65208A>G
NG_016983.2:g.65208A>G

Transcript Alleles

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