Canonical Allele Identifier: CA2697556590

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2708233
• ClinVar RCV Id: RCV003545258

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341874A>C , CM000681.2:g.41341874A>C	GRCh38
NC_000019.9:g.41847779A>C , CM000681.1:g.41847779A>C	GRCh37
NC_000019.8:g.46539619A>C	NCBI36
NG_013364.1:g.17053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.860+9T>G MANE Select	ENSP00000221930.4:n.860+9T>G
ENST00000600196.2:c.712+296T>G	ENSP00000504008.1:n.712+296T>G
ENST00000677934.1:c.634+2873T>G	ENSP00000504769.1:n.634+2873T>G
ENST00000221930.5:c.860+9T>G	ENSP00000221930.4:n.860+9T>G
ENST00000598758.5:c.148+9T>G
ENST00000600196.1:n.172+296T>G
NM_000660.5:c.860+9T>G	NP_000651.3:n.860+9T>G
XM_011527242.1:c.863+9T>G	XP_011525544.1:n.863+9T>G
NM_000660.6:c.860+9T>G	NP_000651.3:n.860+9T>G
XM_011527242.2:c.863+9T>G	XP_011525544.1:n.863+9T>G
NM_000660.7:c.860+9T>G MANE Select	NP_000651.3:n.860+9T>G