Canonical Allele Identifier: CA16607838
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383807
ClinVar RCV Id: RCV000445099
dbSNP Id: rs1057521741
MyVariant Identifiers: chr19:g.41838150G>C (hg19) chr19:g.41332245G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41332245G>C , CM000681.2:g.41332245G>C GRCh38
NC_000019.9:g.41838150G>C , CM000681.1:g.41838150G>C GRCh37
NC_000019.8:g.46529990G>C NCBI36
NG_013364.1:g.26682C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.897C>G MANE Select ENSP00000221930.4:p.Tyr299Ter
ENST00000600196.2:c.749C>G ENSP00000504008.1:p.Thr250Arg
ENST00000677934.1:c.671C>G ENSP00000504769.1:p.Thr224Arg
ENST00000221930.5:c.897C>G ENSP00000221930.4:p.Tyr299Ter
ENST00000598758.5:c.185C>G
ENST00000600196.1:n.209C>G
NM_000660.5:c.897C>G NP_000651.3:p.Tyr299Ter
XM_011527242.1:c.900C>G XP_011525544.1:p.Tyr300Ter
NM_000660.6:c.897C>G NP_000651.3:p.Tyr299Ter
XM_011527242.2:c.900C>G XP_011525544.1:p.Tyr300Ter
NM_000660.7:c.897C>G MANE Select NP_000651.3:p.Tyr299Ter
Search 100 bp 5'
Search 100 bp 3'