Canonical Allele Identifier: CA397842533
Gene: SLC35G6 HGNC NCBI
ZBTB4 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7482316A>C
GRCh37 chr17:g.7385635A>C
Revel Score:
ENST00000412468 (MANE Select) 0.139
ClinVar RCV:
RCV004124286
ClinVar Variation:
2274418
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7482316A>C , CM000679.2:g.7482316A>C GRCh38
NC_000017.10:g.7385635A>C , CM000679.1:g.7385635A>C GRCh37
NC_000017.9:g.7326359A>C NCBI36
NG_027747.1:g.2938A>C
NG_027747.2:g.2938A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000412468.4:c.332A>C (SLC35G6) MANE Select ENSP00000396523.2:p.Asn111Thr
ENST00000311403.4:c.-81+1688T>G (ZBTB4) ENSP00000307858.4:n.-81+1688T>G
ENST00000412468.3:c.332A>C (SLC35G6) ENSP00000396523.2:p.Asn111Thr
NM_001102614.1:c.332A>C (SLC35G6) NP_001096084.1:p.Asn111Thr
NM_020899.3:c.-81+1688T>G (ZBTB4) NP_065950.2:n.-81+1688T>G
NM_020899.4:c.-81+1688T>G (ZBTB4) NP_065950.2:n.-81+1688T>G
NM_001102614.2:c.332A>C (SLC35G6) MANE Select NP_001096084.1:p.Asn111Thr
Search 100 bp 5'
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