Canonical Allele Identifier: CA4186537

Gene: KLHL7

Linked Data

• dbSNP Id: rs754878130
• ExAC: 7:23205366 C / G
• gnomAD v2: 7-23205366-C-G
• MyVariant Identifiers: chr7:g.23205366C>G (hg19) ; chr7:g.23165747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165747C>G , CM000669.2:g.23165747C>G	GRCh38
NC_000007.13:g.23205366C>G , CM000669.1:g.23205366C>G	GRCh37
NC_000007.12:g.23171891C>G	NCBI36
NG_016983.1:g.65014C>G
NG_016983.2:g.65014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.986C>G MANE Select	ENSP00000343273.4:p.Ala329Gly
ENST00000339077.9:c.986C>G	ENSP00000343273.4:p.Ala329Gly
ENST00000409689.5:c.842C>G	ENSP00000386263.1:p.Ala281Gly
ENST00000521082.5:c.*994C>G	ENSP00000430351.1:n.*994C>G
NM_001031710.2:c.986C>G	NP_001026880.2:p.Ala329Gly
NM_018846.4:c.842C>G	NP_061334.4:p.Ala281Gly
NR_033328.1:n.1410C>G
XM_006715753.1:c.1025C>G	XP_006715816.1:p.Ala342Gly
XM_006715754.1:c.959C>G	XP_006715817.1:p.Ala320Gly
XM_006715755.1:c.959C>G	XP_006715818.1:p.Ala320Gly
XM_006715756.1:c.881C>G	XP_006715819.1:p.Ala294Gly
XM_006715753.3:c.1025C>G	XP_006715816.1:p.Ala342Gly
XM_006715754.3:c.959C>G	XP_006715817.1:p.Ala320Gly
XM_006715755.3:c.959C>G	XP_006715818.1:p.Ala320Gly
XM_006715756.3:c.881C>G	XP_006715819.1:p.Ala294Gly
XM_017012439.2:c.920C>G	XP_016867928.1:p.Ala307Gly
NM_001031710.3:c.986C>G MANE Select	NP_001026880.2:p.Ala329Gly
NM_018846.5:c.842C>G	NP_061334.4:p.Ala281Gly
NR_033328.2:n.1359C>G