Canonical Allele Identifier: CA633470193

Gene: TGFB1

Linked Data

• dbSNP Id: rs1187391747
• gnomAD v2: 19-41838378-TC-T
• gnomAD v3: 19-41332473-TC-T
• gnomAD v4: 19-41332473-TC-T
• MyVariant Identifiers: chr19:g.41838379del (hg19) ; chr19:g.41332474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332475del , CM000681.2:g.41332475del	GRCh38
NC_000019.9:g.41838380del , CM000681.1:g.41838380del	GRCh37
NC_000019.8:g.46530220del	NCBI36
NG_013364.1:g.26453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.861-193del MANE Select	ENSP00000221930.4:n.861-193del
ENST00000600196.2:c.713-193del	ENSP00000504008.1:n.713-193del
ENST00000677934.1:c.635-193del	ENSP00000504769.1:n.635-193del
ENST00000221930.5:c.861-193del	ENSP00000221930.4:n.861-193del
ENST00000598758.5:c.149-193del
ENST00000600196.1:n.173-193del
NM_000660.5:c.861-193del	NP_000651.3:n.861-193del
XM_011527242.1:c.864-193del	XP_011525544.1:n.864-193del
NM_000660.6:c.861-193del	NP_000651.3:n.861-193del
XM_011527242.2:c.864-193del	XP_011525544.1:n.864-193del
NM_000660.7:c.861-193del MANE Select	NP_000651.3:n.861-193del