Canonical Allele Identifier: CA366981236

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205381G>C (hg19) ; chr7:g.23165762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165762G>C , CM000669.2:g.23165762G>C	GRCh38
NC_000007.13:g.23205381G>C , CM000669.1:g.23205381G>C	GRCh37
NC_000007.12:g.23171906G>C	NCBI36
NG_016983.1:g.65029G>C
NG_016983.2:g.65029G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1001G>C MANE Select	ENSP00000343273.4:p.Trp334Ser
ENST00000339077.9:c.1001G>C	ENSP00000343273.4:p.Trp334Ser
ENST00000409689.5:c.857G>C	ENSP00000386263.1:p.Trp286Ser
ENST00000521082.5:c.*1009G>C	ENSP00000430351.1:n.*1009G>C
NM_001031710.2:c.1001G>C	NP_001026880.2:p.Trp334Ser
NM_018846.4:c.857G>C	NP_061334.4:p.Trp286Ser
NR_033328.1:n.1425G>C
XM_006715753.1:c.1040G>C	XP_006715816.1:p.Trp347Ser
XM_006715754.1:c.974G>C	XP_006715817.1:p.Trp325Ser
XM_006715755.1:c.974G>C	XP_006715818.1:p.Trp325Ser
XM_006715756.1:c.896G>C	XP_006715819.1:p.Trp299Ser
XM_006715753.3:c.1040G>C	XP_006715816.1:p.Trp347Ser
XM_006715754.3:c.974G>C	XP_006715817.1:p.Trp325Ser
XM_006715755.3:c.974G>C	XP_006715818.1:p.Trp325Ser
XM_006715756.3:c.896G>C	XP_006715819.1:p.Trp299Ser
XM_017012439.2:c.935G>C	XP_016867928.1:p.Trp312Ser
NM_001031710.3:c.1001G>C MANE Select	NP_001026880.2:p.Trp334Ser
NM_018846.5:c.857G>C	NP_061334.4:p.Trp286Ser
NR_033328.2:n.1374G>C