Canonical Allele Identifier: CA366981215

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205372G>T (hg19) ; chr7:g.23165753G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165753G>T , CM000669.2:g.23165753G>T	GRCh38
NC_000007.13:g.23205372G>T , CM000669.1:g.23205372G>T	GRCh37
NC_000007.12:g.23171897G>T	NCBI36
NG_016983.1:g.65020G>T
NG_016983.2:g.65020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.992G>T MANE Select	ENSP00000343273.4:p.Cys331Phe
ENST00000339077.9:c.992G>T	ENSP00000343273.4:p.Cys331Phe
ENST00000409689.5:c.848G>T	ENSP00000386263.1:p.Cys283Phe
ENST00000521082.5:c.*1000G>T	ENSP00000430351.1:n.*1000G>T
NM_001031710.2:c.992G>T	NP_001026880.2:p.Cys331Phe
NM_018846.4:c.848G>T	NP_061334.4:p.Cys283Phe
NR_033328.1:n.1416G>T
XM_006715753.1:c.1031G>T	XP_006715816.1:p.Cys344Phe
XM_006715754.1:c.965G>T	XP_006715817.1:p.Cys322Phe
XM_006715755.1:c.965G>T	XP_006715818.1:p.Cys322Phe
XM_006715756.1:c.887G>T	XP_006715819.1:p.Cys296Phe
XM_006715753.3:c.1031G>T	XP_006715816.1:p.Cys344Phe
XM_006715754.3:c.965G>T	XP_006715817.1:p.Cys322Phe
XM_006715755.3:c.965G>T	XP_006715818.1:p.Cys322Phe
XM_006715756.3:c.887G>T	XP_006715819.1:p.Cys296Phe
XM_017012439.2:c.926G>T	XP_016867928.1:p.Cys309Phe
NM_001031710.3:c.992G>T MANE Select	NP_001026880.2:p.Cys331Phe
NM_018846.5:c.848G>T	NP_061334.4:p.Cys283Phe
NR_033328.2:n.1365G>T