Canonical Allele Identifier: CA4186561

Gene: KLHL7

Linked Data

• dbSNP Id: rs780795733
• ExAC: 7:23205593 T / C
• gnomAD v2: 7-23205593-T-C
• gnomAD v3: 7-23165974-T-C
• gnomAD v4: 7-23165974-T-C
• MyVariant Identifiers: chr7:g.23205593T>C (hg19) ; chr7:g.23165974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165974T>C , CM000669.2:g.23165974T>C	GRCh38
NC_000007.13:g.23205593T>C , CM000669.1:g.23205593T>C	GRCh37
NC_000007.12:g.23172118T>C	NCBI36
NG_016983.1:g.65241T>C
NG_016983.2:g.65241T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+36T>C MANE Select	ENSP00000343273.4:n.1177+36T>C
ENST00000339077.9:c.1177+36T>C	ENSP00000343273.4:n.1177+36T>C
ENST00000409689.5:c.1033+36T>C	ENSP00000386263.1:n.1033+36T>C
ENST00000469576.1:n.64+36T>C
ENST00000521082.5:c.*1185+36T>C	ENSP00000430351.1:n.*1185+36T>C
NM_001031710.2:c.1177+36T>C	NP_001026880.2:n.1177+36T>C
NM_018846.4:c.1033+36T>C	NP_061334.4:n.1033+36T>C
NR_033328.1:n.1601+36T>C
XM_006715753.1:c.1216+36T>C	XP_006715816.1:n.1216+36T>C
XM_006715754.1:c.1150+36T>C	XP_006715817.1:n.1150+36T>C
XM_006715755.1:c.1150+36T>C	XP_006715818.1:n.1150+36T>C
XM_006715756.1:c.1072+36T>C	XP_006715819.1:n.1072+36T>C
XM_006715753.3:c.1216+36T>C	XP_006715816.1:n.1216+36T>C
XM_006715754.3:c.1150+36T>C	XP_006715817.1:n.1150+36T>C
XM_006715755.3:c.1150+36T>C	XP_006715818.1:n.1150+36T>C
XM_006715756.3:c.1072+36T>C	XP_006715819.1:n.1072+36T>C
XM_017012439.2:c.1111+36T>C	XP_016867928.1:n.1111+36T>C
NM_001031710.3:c.1177+36T>C MANE Select	NP_001026880.2:n.1177+36T>C
NM_018846.5:c.1033+36T>C	NP_061334.4:n.1033+36T>C
NR_033328.2:n.1550+36T>C