Canonical Allele Identifier: CA633470007

Gene: TGFB1

Linked Data

• dbSNP Id: rs1396056928
• gnomAD v2: 19-41847779-A-T
• gnomAD v4: 19-41341874-A-T
• MyVariant Identifiers: chr19:g.41847779A>T (hg19) ; chr19:g.41341874A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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