Canonical Allele Identifier: CA4186552

Gene: KLHL7

Linked Data

• dbSNP Id: rs766696714
• ExAC: 7:23205558 G / A
• gnomAD v2: 7-23205558-G-A
• gnomAD v4: 7-23165939-G-A
• MyVariant Identifiers: chr7:g.23205558G>A (hg19) ; chr7:g.23165939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165939G>A , CM000669.2:g.23165939G>A	GRCh38
NC_000007.13:g.23205558G>A , CM000669.1:g.23205558G>A	GRCh37
NC_000007.12:g.23172083G>A	NCBI36
NG_016983.1:g.65206G>A
NG_016983.2:g.65206G>A

Transcript Alleles

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