Canonical Allele Identifier: CA155256001

Gene: KLHL7

Linked Data

• dbSNP Id: rs965637162
• gnomAD v2: 7-23205337-C-T
• gnomAD v3: 7-23165718-C-T
• gnomAD v4: 7-23165718-C-T
• MyVariant Identifiers: chr7:g.23205337C>T (hg19) ; chr7:g.23165718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165718C>T , CM000669.2:g.23165718C>T	GRCh38
NC_000007.13:g.23205337C>T , CM000669.1:g.23205337C>T	GRCh37
NC_000007.12:g.23171862C>T	NCBI36
NG_016983.1:g.64985C>T
NG_016983.2:g.64985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.957C>T MANE Select	ENSP00000343273.4:p.Ile319=
ENST00000339077.9:c.957C>T	ENSP00000343273.4:p.Ile319=
ENST00000409689.5:c.813C>T	ENSP00000386263.1:p.Ile271=
ENST00000521082.5:c.*965C>T	ENSP00000430351.1:n.*965C>T
NM_001031710.2:c.957C>T	NP_001026880.2:p.Ile319=
NM_018846.4:c.813C>T	NP_061334.4:p.Ile271=
NR_033328.1:n.1381C>T
XM_006715753.1:c.996C>T	XP_006715816.1:p.Ile332=
XM_006715754.1:c.930C>T	XP_006715817.1:p.Ile310=
XM_006715755.1:c.930C>T	XP_006715818.1:p.Ile310=
XM_006715756.1:c.852C>T	XP_006715819.1:p.Ile284=
XM_006715753.3:c.996C>T	XP_006715816.1:p.Ile332=
XM_006715754.3:c.930C>T	XP_006715817.1:p.Ile310=
XM_006715755.3:c.930C>T	XP_006715818.1:p.Ile310=
XM_006715756.3:c.852C>T	XP_006715819.1:p.Ile284=
XM_017012439.2:c.891C>T	XP_016867928.1:p.Ile297=
NM_001031710.3:c.957C>T MANE Select	NP_001026880.2:p.Ile319=
NM_018846.5:c.813C>T	NP_061334.4:p.Ile271=
NR_033328.2:n.1330C>T