Canonical Allele Identifier: CA4186534

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 734318
• ClinVar RCV Id: RCV000909722
• dbSNP Id: rs142577273
• ExAC: 7:23205334 C / T
• gnomAD v2: 7-23205334-C-T
• gnomAD v3: 7-23165715-C-T
• gnomAD v4: 7-23165715-C-T
• MyVariant Identifiers: chr7:g.23205334C>T (hg19) ; chr7:g.23165715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165715C>T , CM000669.2:g.23165715C>T	GRCh38
NC_000007.13:g.23205334C>T , CM000669.1:g.23205334C>T	GRCh37
NC_000007.12:g.23171859C>T	NCBI36
NG_016983.1:g.64982C>T
NG_016983.2:g.64982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.954C>T MANE Select	ENSP00000343273.4:p.Asp318=
ENST00000339077.9:c.954C>T	ENSP00000343273.4:p.Asp318=
ENST00000409689.5:c.810C>T	ENSP00000386263.1:p.Asp270=
ENST00000521082.5:c.*962C>T	ENSP00000430351.1:n.*962C>T
NM_001031710.2:c.954C>T	NP_001026880.2:p.Asp318=
NM_018846.4:c.810C>T	NP_061334.4:p.Asp270=
NR_033328.1:n.1378C>T
XM_006715753.1:c.993C>T	XP_006715816.1:p.Asp331=
XM_006715754.1:c.927C>T	XP_006715817.1:p.Asp309=
XM_006715755.1:c.927C>T	XP_006715818.1:p.Asp309=
XM_006715756.1:c.849C>T	XP_006715819.1:p.Asp283=
XM_006715753.3:c.993C>T	XP_006715816.1:p.Asp331=
XM_006715754.3:c.927C>T	XP_006715817.1:p.Asp309=
XM_006715755.3:c.927C>T	XP_006715818.1:p.Asp309=
XM_006715756.3:c.849C>T	XP_006715819.1:p.Asp283=
XM_017012439.2:c.888C>T	XP_016867928.1:p.Asp296=
NM_001031710.3:c.954C>T MANE Select	NP_001026880.2:p.Asp318=
NM_018846.5:c.810C>T	NP_061334.4:p.Asp270=
NR_033328.2:n.1327C>T