ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA136859104
Gene:
Linked Data
dbSNP Id:
rs9469003
gnomAD v2:
6-31407828-T-C
gnomAD v3:
6-31440051-T-C
gnomAD v4:
6-31440051-T-C
MyVariant Identifiers:
chr6:g.31407828T>C (hg19)
chr6:g.31440051T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31440051T>C , CM000668.2:g.31440051T>C
GRCh38
NC_000006.11:g.31407828T>C , CM000668.1:g.31407828T>C
GRCh37
NC_000006.10:g.31515807T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_926694.1:n.56A>G
Search 100 bp 5'
Search 100 bp 3'