Canonical Allele Identifier: CA366981846

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23207541A>C (hg19) ; chr7:g.23167922A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23167922A>C , CM000669.2:g.23167922A>C	GRCh38
NC_000007.13:g.23207541A>C , CM000669.1:g.23207541A>C	GRCh37
NC_000007.12:g.23174066A>C	NCBI36
NG_016983.1:g.67189A>C
NG_016983.2:g.67189A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1264A>C MANE Select	ENSP00000343273.4:p.Ser422Arg
ENST00000339077.9:c.1264A>C	ENSP00000343273.4:p.Ser422Arg
ENST00000409689.5:c.1120A>C	ENSP00000386263.1:p.Ser374Arg
ENST00000469576.1:n.151A>C
ENST00000521082.5:c.*1272A>C	ENSP00000430351.1:n.*1272A>C
NM_001031710.2:c.1264A>C	NP_001026880.2:p.Ser422Arg
NM_018846.4:c.1120A>C	NP_061334.4:p.Ser374Arg
NR_033328.1:n.1688A>C
XM_006715753.1:c.1303A>C	XP_006715816.1:p.Ser435Arg
XM_006715754.1:c.1237A>C	XP_006715817.1:p.Ser413Arg
XM_006715755.1:c.1237A>C	XP_006715818.1:p.Ser413Arg
XM_006715756.1:c.1159A>C	XP_006715819.1:p.Ser387Arg
XM_006715753.3:c.1303A>C	XP_006715816.1:p.Ser435Arg
XM_006715754.3:c.1237A>C	XP_006715817.1:p.Ser413Arg
XM_006715755.3:c.1237A>C	XP_006715818.1:p.Ser413Arg
XM_006715756.3:c.1159A>C	XP_006715819.1:p.Ser387Arg
XM_017012439.2:c.1198A>C	XP_016867928.1:p.Ser400Arg
NM_001031710.3:c.1264A>C MANE Select	NP_001026880.2:p.Ser422Arg
NM_018846.5:c.1120A>C	NP_061334.4:p.Ser374Arg
NR_033328.2:n.1637A>C