Canonical Allele Identifier: CA366981095

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165701-T-C
• MyVariant Identifiers: chr7:g.23205320T>C (hg19) ; chr7:g.23165701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165701T>C , CM000669.2:g.23165701T>C	GRCh38
NC_000007.13:g.23205320T>C , CM000669.1:g.23205320T>C	GRCh37
NC_000007.12:g.23171845T>C	NCBI36
NG_016983.1:g.64968T>C
NG_016983.2:g.64968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.940T>C MANE Select	ENSP00000343273.4:p.Tyr314His
ENST00000339077.9:c.940T>C	ENSP00000343273.4:p.Tyr314His
ENST00000409689.5:c.796T>C	ENSP00000386263.1:p.Tyr266His
ENST00000521082.5:c.*948T>C	ENSP00000430351.1:n.*948T>C
NM_001031710.2:c.940T>C	NP_001026880.2:p.Tyr314His
NM_018846.4:c.796T>C	NP_061334.4:p.Tyr266His
NR_033328.1:n.1364T>C
XM_006715753.1:c.979T>C	XP_006715816.1:p.Tyr327His
XM_006715754.1:c.913T>C	XP_006715817.1:p.Tyr305His
XM_006715755.1:c.913T>C	XP_006715818.1:p.Tyr305His
XM_006715756.1:c.835T>C	XP_006715819.1:p.Tyr279His
XM_006715753.3:c.979T>C	XP_006715816.1:p.Tyr327His
XM_006715754.3:c.913T>C	XP_006715817.1:p.Tyr305His
XM_006715755.3:c.913T>C	XP_006715818.1:p.Tyr305His
XM_006715756.3:c.835T>C	XP_006715819.1:p.Tyr279His
XM_017012439.2:c.874T>C	XP_016867928.1:p.Tyr292His
NM_001031710.3:c.940T>C MANE Select	NP_001026880.2:p.Tyr314His
NM_018846.5:c.796T>C	NP_061334.4:p.Tyr266His
NR_033328.2:n.1313T>C