Canonical Allele Identifier: CA366981483

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205485C>T (hg19) ; chr7:g.23165866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165866C>T , CM000669.2:g.23165866C>T	GRCh38
NC_000007.13:g.23205485C>T , CM000669.1:g.23205485C>T	GRCh37
NC_000007.12:g.23172010C>T	NCBI36
NG_016983.1:g.65133C>T
NG_016983.2:g.65133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1105C>T MANE Select	ENSP00000343273.4:p.Pro369Ser
ENST00000339077.9:c.1105C>T	ENSP00000343273.4:p.Pro369Ser
ENST00000409689.5:c.961C>T	ENSP00000386263.1:p.Pro321Ser
ENST00000521082.5:c.*1113C>T	ENSP00000430351.1:n.*1113C>T
NM_001031710.2:c.1105C>T	NP_001026880.2:p.Pro369Ser
NM_018846.4:c.961C>T	NP_061334.4:p.Pro321Ser
NR_033328.1:n.1529C>T
XM_006715753.1:c.1144C>T	XP_006715816.1:p.Pro382Ser
XM_006715754.1:c.1078C>T	XP_006715817.1:p.Pro360Ser
XM_006715755.1:c.1078C>T	XP_006715818.1:p.Pro360Ser
XM_006715756.1:c.1000C>T	XP_006715819.1:p.Pro334Ser
XM_006715753.3:c.1144C>T	XP_006715816.1:p.Pro382Ser
XM_006715754.3:c.1078C>T	XP_006715817.1:p.Pro360Ser
XM_006715755.3:c.1078C>T	XP_006715818.1:p.Pro360Ser
XM_006715756.3:c.1000C>T	XP_006715819.1:p.Pro334Ser
XM_017012439.2:c.1039C>T	XP_016867928.1:p.Pro347Ser
NM_001031710.3:c.1105C>T MANE Select	NP_001026880.2:p.Pro369Ser
NM_018846.5:c.961C>T	NP_061334.4:p.Pro321Ser
NR_033328.2:n.1478C>T