Canonical Allele Identifier: CA453994443

Gene: KLHL7

Linked Data

• dbSNP Id: rs1331353101
• gnomAD v3: 7-23167840-C-T
• gnomAD v4: 7-23167840-C-T
• MyVariant Identifiers: chr7:g.23207459C>T (hg19) ; chr7:g.23167840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23167840C>T , CM000669.2:g.23167840C>T	GRCh38
NC_000007.13:g.23207459C>T , CM000669.1:g.23207459C>T	GRCh37
NC_000007.12:g.23173984C>T	NCBI36
NG_016983.1:g.67107C>T
NG_016983.2:g.67107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1182C>T MANE Select	ENSP00000343273.4:p.Asn394=
ENST00000339077.9:c.1182C>T	ENSP00000343273.4:p.Asn394=
ENST00000409689.5:c.1038C>T	ENSP00000386263.1:p.Asn346=
ENST00000469576.1:n.69C>T
ENST00000521082.5:c.*1190C>T	ENSP00000430351.1:n.*1190C>T
NM_001031710.2:c.1182C>T	NP_001026880.2:p.Asn394=
NM_018846.4:c.1038C>T	NP_061334.4:p.Asn346=
NR_033328.1:n.1606C>T
XM_006715753.1:c.1221C>T	XP_006715816.1:p.Asn407=
XM_006715754.1:c.1155C>T	XP_006715817.1:p.Asn385=
XM_006715755.1:c.1155C>T	XP_006715818.1:p.Asn385=
XM_006715756.1:c.1077C>T	XP_006715819.1:p.Asn359=
XM_006715753.3:c.1221C>T	XP_006715816.1:p.Asn407=
XM_006715754.3:c.1155C>T	XP_006715817.1:p.Asn385=
XM_006715755.3:c.1155C>T	XP_006715818.1:p.Asn385=
XM_006715756.3:c.1077C>T	XP_006715819.1:p.Asn359=
XM_017012439.2:c.1116C>T	XP_016867928.1:p.Asn372=
NM_001031710.3:c.1182C>T MANE Select	NP_001026880.2:p.Asn394=
NM_018846.5:c.1038C>T	NP_061334.4:p.Asn346=
NR_033328.2:n.1555C>T