Canonical Allele Identifier: CA1493075
Gene: ZNF670 HGNC NCBI
ZNF670-ZNF695 HGNC NCBI
ClinVar RCV:
RCV004259792
ClinVar Variation:
2472228
dbSNP:
762911835
gnomAD v2:
1:247200779 C / T
gnomAD v3:
1:247037477 C / T
gnomAD v4:
chr1-247037477-C-T
Joint Max Group AF 0.00002556 (AFR)
Genomes Max Group AF 0.0000325 (AFR)
Exomes Max Group AF 0.00000932 (NFE)
MyVariant.info:
GRCh38 chr1:g.247037477C>T
GRCh37 chr1:g.247200779C>T
Revel Score:
ENST00000366503 (MANE Select) 0.035
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.247037477C>T , CM000663.2:g.247037477C>T GRCh38
NC_000001.10:g.247200779C>T , CM000663.1:g.247200779C>T GRCh37
NC_000001.9:g.245267402C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366503.3:c.1142G>A (ZNF670) MANE Select ENSP00000355459.2:p.Arg381Gln
ENST00000366503.2:c.1142G>A (ZNF670) ENSP00000355459.2:p.Arg381Gln
ENST00000465049.6:c.4-37403G>A (ZNF670-ZNF695) ENSP00000428213.1:n.4-37403G>A
ENST00000474541.1:c.4-37403G>A (ZNF670-ZNF695) ENSP00000428036.1:n.4-37403G>A
NM_001204220.1:c.1139G>A (ZNF670) NP_001191149.1:p.Arg380Gln
NM_033213.4:c.1142G>A (ZNF670) NP_149990.1:p.Arg381Gln
NR_037894.1:n.221-37403G>A (ZNF670-ZNF695)
NM_033213.5:c.1142G>A (ZNF670) MANE Select NP_149990.1:p.Arg381Gln
NM_001204220.2:c.1139G>A (ZNF670) NP_001191149.1:p.Arg380Gln
NR_037894.2:n.219-37403G>A (ZNF670-ZNF695)
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