Canonical Allele Identifier: CA14635884
Gene: ZNF490 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12580371C>T
GRCh37 chr19:g.12691185C>T
gnomAD v2:
19:12691185 C / T
gnomAD v3:
19:12580371 C / T
gnomAD v4:
chr19-12580371-C-T
Joint Max Group AF 0.68597357 (NFE)
Genomes Max Group AF 0.68349728 (NFE)
Exomes Max Group AF 0.68583868 (NFE)
dbSNP:
7247513
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12580371C>T , CM000681.2:g.12580371C>T GRCh38
NC_000019.9:g.12691185C>T , CM000681.1:g.12691185C>T GRCh37
NC_000019.8:g.12552185C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000311437.11:c.*114G>A MANE Select ENSP00000311521.6:n.*114G>A
ENST00000311437.10:c.*114G>A ENSP00000311521.6:n.*114G>A
ENST00000593682.1:c.605G>A
NM_020714.2:c.*114G>A NP_065765.1:n.*114G>A
NM_020714.3:c.*114G>A MANE Select NP_065765.1:n.*114G>A
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