Canonical Allele Identifier: CA308569649
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38900
ClinVar RCV Id: RCV000032150
dbSNP Id: rs281865485
MyVariant Identifiers: chr19:g.41848123G>C (hg19) chr19:g.41342218G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342218G>C , CM000681.2:g.41342218G>C GRCh38
NC_000019.9:g.41848123G>C , CM000681.1:g.41848123G>C GRCh37
NC_000019.8:g.46539963G>C NCBI36
NG_013364.1:g.16709C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.664C>G MANE Select ENSP00000221930.4:p.His222Asp
ENST00000600196.2:c.664C>G ENSP00000504008.1:p.His222Asp
ENST00000677934.1:c.634+2529C>G ENSP00000504769.1:n.634+2529C>G
ENST00000221930.5:c.664C>G ENSP00000221930.4:p.His222Asp
ENST00000597453.1:n.195C>G
ENST00000600196.1:n.124C>G
NM_000660.5:c.664C>G NP_000651.3:p.His222Asp
XM_011527242.1:c.664C>G XP_011525544.1:p.His222Asp
NM_000660.6:c.664C>G NP_000651.3:p.His222Asp
XM_011527242.2:c.664C>G XP_011525544.1:p.His222Asp
NM_000660.7:c.664C>G MANE Select NP_000651.3:p.His222Asp
Search 100 bp 5'
Search 100 bp 3'