Canonical Allele Identifier: CA836816330
Community Standard Title: NM_001031710.3(KLHL7):c.618+10T>C
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23140954T>C , CM000669.2:g.23140954T>C GRCh38
NC_000007.13:g.23180573T>C , CM000669.1:g.23180573T>C GRCh37
NC_000007.12:g.23147098T>C NCBI36
NG_016983.1:g.40221T>C
NG_016983.2:g.40221T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001031710.3:c.618+10T>C MANE Select NP_001026880.2:n.618+10T>C
ENST00000339077.10:c.618+10T>C MANE Select ENSP00000343273.4:n.618+10T>C
NM_001031710.2:c.618+10T>C NP_001026880.2:n.618+10T>C
NM_018846.4:c.474+10T>C NP_061334.4:n.474+10T>C
NM_018846.5:c.474+10T>C NP_061334.4:n.474+10T>C
NR_033328.1:n.1042+10T>C
NR_033328.2:n.991+10T>C
ENST00000339077.9:c.618+10T>C ENSP00000343273.4:n.618+10T>C
ENST00000409689.5:c.474+10T>C ENSP00000386263.1:n.474+10T>C
ENST00000479288.5:n.565+10T>C
ENST00000521082.5:c.*626+10T>C ENSP00000430351.1:n.*626+10T>C
XM_006715753.1:c.657+10T>C XP_006715816.1:n.657+10T>C
XM_006715753.3:c.657+10T>C XP_006715816.1:n.657+10T>C
XM_006715754.1:c.591+10T>C XP_006715817.1:n.591+10T>C
XM_006715754.3:c.591+10T>C XP_006715817.1:n.591+10T>C
XM_006715755.1:c.591+10T>C XP_006715818.1:n.591+10T>C
XM_006715755.3:c.591+10T>C XP_006715818.1:n.591+10T>C
XM_006715756.1:c.513+10T>C XP_006715819.1:n.513+10T>C
XM_006715756.3:c.513+10T>C XP_006715819.1:n.513+10T>C
XM_006715757.2:c.657+10T>C XP_006715820.1:n.657+10T>C
XM_006715757.4:c.657+10T>C XP_006715820.1:n.657+10T>C
XM_017012439.2:c.552+10T>C XP_016867928.1:n.552+10T>C
XM_017012440.2:c.618+10T>C XP_016867929.1:n.618+10T>C
XM_017012441.2:c.552+10T>C XP_016867930.1:n.552+10T>C