Canonical Allele Identifier: CA633470006

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2791700
• ClinVar RCV Id: RCV003674628
• dbSNP Id: rs1436964791
• gnomAD v2: 19-41847773-G-A
• gnomAD v4: 19-41341868-G-A
• MyVariant Identifiers: chr19:g.41847773G>A (hg19) ; chr19:g.41341868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341868G>A , CM000681.2:g.41341868G>A	GRCh38
NC_000019.9:g.41847773G>A , CM000681.1:g.41847773G>A	GRCh37
NC_000019.8:g.46539613G>A	NCBI36
NG_013364.1:g.17059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.860+15C>T MANE Select	ENSP00000221930.4:n.860+15C>T
ENST00000600196.2:c.712+302C>T	ENSP00000504008.1:n.712+302C>T
ENST00000677934.1:c.634+2879C>T	ENSP00000504769.1:n.634+2879C>T
ENST00000221930.5:c.860+15C>T	ENSP00000221930.4:n.860+15C>T
ENST00000598758.5:c.148+15C>T
ENST00000600196.1:n.172+302C>T
NM_000660.5:c.860+15C>T	NP_000651.3:n.860+15C>T
XM_011527242.1:c.863+15C>T	XP_011525544.1:n.863+15C>T
NM_000660.6:c.860+15C>T	NP_000651.3:n.860+15C>T
XM_011527242.2:c.863+15C>T	XP_011525544.1:n.863+15C>T
NM_000660.7:c.860+15C>T MANE Select	NP_000651.3:n.860+15C>T