Canonical Allele Identifier: CA633470194

Gene: TGFB1

Linked Data

• dbSNP Id: rs1472903521
• gnomAD v2: 19-41838394-G-GC
• gnomAD v3: 19-41332489-G-GC
• gnomAD v4: 19-41332489-G-GC
• MyVariant Identifiers: chr19:g.41838394_41838395insC (hg19) ; chr19:g.41332489_41332490insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332490dup , CM000681.2:g.41332490dup	GRCh38
NC_000019.9:g.41838395dup , CM000681.1:g.41838395dup	GRCh37
NC_000019.8:g.46530235dup	NCBI36
NG_013364.1:g.26437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.861-209dup MANE Select	ENSP00000221930.4:n.861-209dup
ENST00000600196.2:c.713-209dup	ENSP00000504008.1:n.713-209dup
ENST00000677934.1:c.635-209dup	ENSP00000504769.1:n.635-209dup
ENST00000221930.5:c.861-209dup	ENSP00000221930.4:n.861-209dup
ENST00000598758.5:c.149-209dup
ENST00000600196.1:n.173-209dup
NM_000660.5:c.861-209dup	NP_000651.3:n.861-209dup
XM_011527242.1:c.864-209dup	XP_011525544.1:n.864-209dup
NM_000660.6:c.861-209dup	NP_000651.3:n.861-209dup
XM_011527242.2:c.864-209dup	XP_011525544.1:n.864-209dup
NM_000660.7:c.861-209dup MANE Select	NP_000651.3:n.861-209dup