Canonical Allele Identifier: CA155252335

Gene: KLHL7

Linked Data

• dbSNP Id: rs114621315
• gnomAD v2: 7-23205241-T-G
• gnomAD v3: 7-23165622-T-G
• gnomAD v4: 7-23165622-T-G
• MyVariant Identifiers: chr7:g.23205241T>G (hg19) ; chr7:g.23165622T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165622T>G , CM000669.2:g.23165622T>G	GRCh38
NC_000007.13:g.23205241T>G , CM000669.1:g.23205241T>G	GRCh37
NC_000007.12:g.23171766T>G	NCBI36
NG_016983.1:g.64889T>G
NG_016983.2:g.64889T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.937-76T>G MANE Select	ENSP00000343273.4:n.937-76T>G
ENST00000339077.9:c.937-76T>G	ENSP00000343273.4:n.937-76T>G
ENST00000409689.5:c.793-76T>G	ENSP00000386263.1:n.793-76T>G
ENST00000521082.5:c.*945-76T>G	ENSP00000430351.1:n.*945-76T>G
NM_001031710.2:c.937-76T>G	NP_001026880.2:n.937-76T>G
NM_018846.4:c.793-76T>G	NP_061334.4:n.793-76T>G
NR_033328.1:n.1361-76T>G
XM_006715753.1:c.976-76T>G	XP_006715816.1:n.976-76T>G
XM_006715754.1:c.910-76T>G	XP_006715817.1:n.910-76T>G
XM_006715755.1:c.910-76T>G	XP_006715818.1:n.910-76T>G
XM_006715756.1:c.832-76T>G	XP_006715819.1:n.832-76T>G
XM_006715753.3:c.976-76T>G	XP_006715816.1:n.976-76T>G
XM_006715754.3:c.910-76T>G	XP_006715817.1:n.910-76T>G
XM_006715755.3:c.910-76T>G	XP_006715818.1:n.910-76T>G
XM_006715756.3:c.832-76T>G	XP_006715819.1:n.832-76T>G
XM_017012439.2:c.871-76T>G	XP_016867928.1:n.871-76T>G
NM_001031710.3:c.937-76T>G MANE Select	NP_001026880.2:n.937-76T>G
NM_018846.5:c.793-76T>G	NP_061334.4:n.793-76T>G
NR_033328.2:n.1310-76T>G