ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA14676526
Gene: TGFB1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.41327262T>C
GRCh37
chr19:g.41833167T>C
Linked Data - Sequence & Population
gnomAD v2:
19:41833167 T / C
gnomAD v3:
19:41327262 T / C
gnomAD v4:
chr19-41327262-T-C
Joint Max Group AF
0.95688592 (AFR)
Genomes Max Group AF
0.95688592 (AFR)
Linked Data - NCBI & NCI
dbSNP:
10417924
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41327262T>C , CM000681.2:g.41327262T>C
GRCh38
NC_000019.9:g.41833167T>C , CM000681.1:g.41833167T>C
GRCh37
NC_000019.8:g.46525007T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000598758.5:c.302+4866A>G
Search 100 bp 5'
Search 100 bp 3'