Canonical Allele Identifier: CA366981570

Gene: KLHL7

Linked Data

• dbSNP Id: rs1784992253
• gnomAD v4: 7-23165908-A-T
• MyVariant Identifiers: chr7:g.23205527A>T (hg19) ; chr7:g.23165908A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165908A>T , CM000669.2:g.23165908A>T	GRCh38
NC_000007.13:g.23205527A>T , CM000669.1:g.23205527A>T	GRCh37
NC_000007.12:g.23172052A>T	NCBI36
NG_016983.1:g.65175A>T
NG_016983.2:g.65175A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1147A>T MANE Select	ENSP00000343273.4:p.Lys383Ter
ENST00000339077.9:c.1147A>T	ENSP00000343273.4:p.Lys383Ter
ENST00000409689.5:c.1003A>T	ENSP00000386263.1:p.Lys335Ter
ENST00000469576.1:n.34A>T
ENST00000521082.5:c.*1155A>T	ENSP00000430351.1:n.*1155A>T
NM_001031710.2:c.1147A>T	NP_001026880.2:p.Lys383Ter
NM_018846.4:c.1003A>T	NP_061334.4:p.Lys335Ter
NR_033328.1:n.1571A>T
XM_006715753.1:c.1186A>T	XP_006715816.1:p.Lys396Ter
XM_006715754.1:c.1120A>T	XP_006715817.1:p.Lys374Ter
XM_006715755.1:c.1120A>T	XP_006715818.1:p.Lys374Ter
XM_006715756.1:c.1042A>T	XP_006715819.1:p.Lys348Ter
XM_006715753.3:c.1186A>T	XP_006715816.1:p.Lys396Ter
XM_006715754.3:c.1120A>T	XP_006715817.1:p.Lys374Ter
XM_006715755.3:c.1120A>T	XP_006715818.1:p.Lys374Ter
XM_006715756.3:c.1042A>T	XP_006715819.1:p.Lys348Ter
XM_017012439.2:c.1081A>T	XP_016867928.1:p.Lys361Ter
NM_001031710.3:c.1147A>T MANE Select	NP_001026880.2:p.Lys383Ter
NM_018846.5:c.1003A>T	NP_061334.4:p.Lys335Ter
NR_033328.2:n.1520A>T