ClinGen Allele Registry
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Canonical Allele Identifier:
CA16174491
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.11673037T>C
GRCh37
chr4:g.11674661T>C
Linked Data - Sequence & Population
gnomAD v2:
4:11674661 T / C
gnomAD v3:
4:11673037 T / C
gnomAD v4:
chr4-11673037-T-C
Joint Max Group AF
0.8023376 (AFR)
Genomes Max Group AF
0.8023376 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7671189
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.11673037T>C , CM000666.2:g.11673037T>C
GRCh38
NC_000004.11:g.11674661T>C , CM000666.1:g.11674661T>C
GRCh37
NC_000004.10:g.11283759T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741361.1:n.1027-90422T>C
Search 100 bp 5'
Search 100 bp 3'