Canonical Allele Identifier: CA12919452
Gene: ARC HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.142612050C>T
GRCh37 chr8:g.143693411C>T
gnomAD v2:
8:143693411 C / T
gnomAD v3:
8:142612050 C / T
gnomAD v4:
chr8-142612050-C-T
Joint Max Group AF 0.37780783 (MID)
Genomes Max Group AF 0.35712421 (AFR)
Exomes Max Group AF 0.16735136 (NFE)
dbSNP:
35900184
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142612050C>T , CM000670.2:g.142612050C>T GRCh38
NC_000008.10:g.143693411C>T , CM000670.1:g.143693411C>T GRCh37
NC_000008.9:g.143690413C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356613.4:c.*742+58G>A MANE Select ENSP00000349022.2:n.*742+58G>A
ENST00000356613.3:c.*742+58G>A ENSP00000349022.2:n.*742+58G>A
NM_015193.4:c.*742+58G>A NP_056008.1:n.*742+58G>A
NM_015193.5:c.*742+58G>A MANE Select NP_056008.1:n.*742+58G>A
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