Canonical Allele Identifier: CA366981217

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165754-C-A
• MyVariant Identifiers: chr7:g.23205373C>A (hg19) ; chr7:g.23165754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165754C>A , CM000669.2:g.23165754C>A	GRCh38
NC_000007.13:g.23205373C>A , CM000669.1:g.23205373C>A	GRCh37
NC_000007.12:g.23171898C>A	NCBI36
NG_016983.1:g.65021C>A
NG_016983.2:g.65021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.993C>A MANE Select	ENSP00000343273.4:p.Cys331Ter
ENST00000339077.9:c.993C>A	ENSP00000343273.4:p.Cys331Ter
ENST00000409689.5:c.849C>A	ENSP00000386263.1:p.Cys283Ter
ENST00000521082.5:c.*1001C>A	ENSP00000430351.1:n.*1001C>A
NM_001031710.2:c.993C>A	NP_001026880.2:p.Cys331Ter
NM_018846.4:c.849C>A	NP_061334.4:p.Cys283Ter
NR_033328.1:n.1417C>A
XM_006715753.1:c.1032C>A	XP_006715816.1:p.Cys344Ter
XM_006715754.1:c.966C>A	XP_006715817.1:p.Cys322Ter
XM_006715755.1:c.966C>A	XP_006715818.1:p.Cys322Ter
XM_006715756.1:c.888C>A	XP_006715819.1:p.Cys296Ter
XM_006715753.3:c.1032C>A	XP_006715816.1:p.Cys344Ter
XM_006715754.3:c.966C>A	XP_006715817.1:p.Cys322Ter
XM_006715755.3:c.966C>A	XP_006715818.1:p.Cys322Ter
XM_006715756.3:c.888C>A	XP_006715819.1:p.Cys296Ter
XM_017012439.2:c.927C>A	XP_016867928.1:p.Cys309Ter
NM_001031710.3:c.993C>A MANE Select	NP_001026880.2:p.Cys331Ter
NM_018846.5:c.849C>A	NP_061334.4:p.Cys283Ter
NR_033328.2:n.1366C>A