Canonical Allele Identifier: CA287456612
Gene: SLC35G6 HGNC NCBI
ZBTB4 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7482403T>G
GRCh37 chr17:g.7385722T>G
Revel Score:
ENST00000412468 (MANE Select) 0.513
gnomAD v2:
17:7385722 T / G
gnomAD v3:
17:7482403 T / G
gnomAD v4:
chr17-7482403-T-G
Joint Max Group AF 0.00001063 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
ClinVar RCV:
RCV004108432
ClinVar Variation:
2256673
dbSNP:
922792938
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7482403T>G , CM000679.2:g.7482403T>G GRCh38
NC_000017.10:g.7385722T>G , CM000679.1:g.7385722T>G GRCh37
NC_000017.9:g.7326446T>G NCBI36
NG_027747.1:g.3025T>G
NG_027747.2:g.3025T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000412468.4:c.419T>G (SLC35G6) MANE Select ENSP00000396523.2:p.Val140Gly
ENST00000311403.4:c.-81+1601A>C (ZBTB4) ENSP00000307858.4:n.-81+1601A>C
ENST00000412468.3:c.419T>G (SLC35G6) ENSP00000396523.2:p.Val140Gly
NM_001102614.1:c.419T>G (SLC35G6) NP_001096084.1:p.Val140Gly
NM_020899.3:c.-81+1601A>C (ZBTB4) NP_065950.2:n.-81+1601A>C
NM_020899.4:c.-81+1601A>C (ZBTB4) NP_065950.2:n.-81+1601A>C
NM_001102614.2:c.419T>G (SLC35G6) MANE Select NP_001096084.1:p.Val140Gly
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