ClinGen Allele Registry
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Canonical Allele Identifier:
CA542420827
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr3:g.35101019G>A
GRCh37
chr3:g.35142511G>A
Linked Data - Sequence & Population
gnomAD v2:
3:35142511 G / A
Linked Data - NCBI & NCI
dbSNP:
11129640
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.35101019G>A , CM000665.2:g.35101019G>A
GRCh38
NC_000003.11:g.35142511G>A , CM000665.1:g.35142511G>A
GRCh37
NC_000003.10:g.35117515G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110817.1:n.206+205452C>T
Search 100 bp 5'
Search 100 bp 3'