Canonical Allele Identifier: CA4186551

Gene: KLHL7

Linked Data

• dbSNP Id: rs760904286
• ExAC: 7:23205535 T / C
• MyVariant Identifiers: chr7:g.23205535T>C (hg19) ; chr7:g.23165916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165916T>C , CM000669.2:g.23165916T>C	GRCh38
NC_000007.13:g.23205535T>C , CM000669.1:g.23205535T>C	GRCh37
NC_000007.12:g.23172060T>C	NCBI36
NG_016983.1:g.65183T>C
NG_016983.2:g.65183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1155T>C MANE Select	ENSP00000343273.4:p.Tyr385=
ENST00000339077.9:c.1155T>C	ENSP00000343273.4:p.Tyr385=
ENST00000409689.5:c.1011T>C	ENSP00000386263.1:p.Tyr337=
ENST00000469576.1:n.42T>C
ENST00000521082.5:c.*1163T>C	ENSP00000430351.1:n.*1163T>C
NM_001031710.2:c.1155T>C	NP_001026880.2:p.Tyr385=
NM_018846.4:c.1011T>C	NP_061334.4:p.Tyr337=
NR_033328.1:n.1579T>C
XM_006715753.1:c.1194T>C	XP_006715816.1:p.Tyr398=
XM_006715754.1:c.1128T>C	XP_006715817.1:p.Tyr376=
XM_006715755.1:c.1128T>C	XP_006715818.1:p.Tyr376=
XM_006715756.1:c.1050T>C	XP_006715819.1:p.Tyr350=
XM_006715753.3:c.1194T>C	XP_006715816.1:p.Tyr398=
XM_006715754.3:c.1128T>C	XP_006715817.1:p.Tyr376=
XM_006715755.3:c.1128T>C	XP_006715818.1:p.Tyr376=
XM_006715756.3:c.1050T>C	XP_006715819.1:p.Tyr350=
XM_017012439.2:c.1089T>C	XP_016867928.1:p.Tyr363=
NM_001031710.3:c.1155T>C MANE Select	NP_001026880.2:p.Tyr385=
NM_018846.5:c.1011T>C	NP_061334.4:p.Tyr337=
NR_033328.2:n.1528T>C