ClinGen Allele Registry
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Canonical Allele Identifier:
CA15505491
Gene:
Linked Data
dbSNP Id:
rs2107595
gnomAD v2:
7-19049388-G-A
gnomAD v3:
7-19009765-G-A
gnomAD v4:
7-19009765-G-A
MyVariant Identifiers:
chr7:g.19049388G>A (hg19)
chr7:g.19009765G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.19009765G>A , CM000669.2:g.19009765G>A
GRCh38
NC_000007.13:g.19049388G>A , CM000669.1:g.19049388G>A
GRCh37
NC_000007.12:g.19015913G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927080.1:n.265-8518C>T
Search 100 bp 5'
Search 100 bp 3'