Canonical Allele Identifier: CA155256066

Gene: KLHL7

Linked Data

• dbSNP Id: rs1038304196
• gnomAD v2: 7-23205643-T-C
• gnomAD v3: 7-23166024-T-C
• gnomAD v4: 7-23166024-T-C
• MyVariant Identifiers: chr7:g.23205643T>C (hg19) ; chr7:g.23166024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23166024T>C , CM000669.2:g.23166024T>C	GRCh38
NC_000007.13:g.23205643T>C , CM000669.1:g.23205643T>C	GRCh37
NC_000007.12:g.23172168T>C	NCBI36
NG_016983.1:g.65291T>C
NG_016983.2:g.65291T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+86T>C MANE Select	ENSP00000343273.4:n.1177+86T>C
ENST00000339077.9:c.1177+86T>C	ENSP00000343273.4:n.1177+86T>C
ENST00000409689.5:c.1033+86T>C	ENSP00000386263.1:n.1033+86T>C
ENST00000469576.1:n.64+86T>C
ENST00000521082.5:c.*1185+86T>C	ENSP00000430351.1:n.*1185+86T>C
NM_001031710.2:c.1177+86T>C	NP_001026880.2:n.1177+86T>C
NM_018846.4:c.1033+86T>C	NP_061334.4:n.1033+86T>C
NR_033328.1:n.1601+86T>C
XM_006715753.1:c.1216+86T>C	XP_006715816.1:n.1216+86T>C
XM_006715754.1:c.1150+86T>C	XP_006715817.1:n.1150+86T>C
XM_006715755.1:c.1150+86T>C	XP_006715818.1:n.1150+86T>C
XM_006715756.1:c.1072+86T>C	XP_006715819.1:n.1072+86T>C
XM_006715753.3:c.1216+86T>C	XP_006715816.1:n.1216+86T>C
XM_006715754.3:c.1150+86T>C	XP_006715817.1:n.1150+86T>C
XM_006715755.3:c.1150+86T>C	XP_006715818.1:n.1150+86T>C
XM_006715756.3:c.1072+86T>C	XP_006715819.1:n.1072+86T>C
XM_017012439.2:c.1111+86T>C	XP_016867928.1:n.1111+86T>C
NM_001031710.3:c.1177+86T>C MANE Select	NP_001026880.2:n.1177+86T>C
NM_018846.5:c.1033+86T>C	NP_061334.4:n.1033+86T>C
NR_033328.2:n.1550+86T>C