Canonical Allele Identifier: CA308563066

Gene: TGFB1

Linked Data

• dbSNP Id: rs928648368
• gnomAD v2: 19-41838323-C-G
• gnomAD v3: 19-41332418-C-G
• gnomAD v4: 19-41332418-C-G
• MyVariant Identifiers: chr19:g.41838323C>G (hg19) ; chr19:g.41332418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332418C>G , CM000681.2:g.41332418C>G	GRCh38
NC_000019.9:g.41838323C>G , CM000681.1:g.41838323C>G	GRCh37
NC_000019.8:g.46530163C>G	NCBI36
NG_013364.1:g.26509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.861-137G>C MANE Select	ENSP00000221930.4:n.861-137G>C
ENST00000600196.2:c.713-137G>C	ENSP00000504008.1:n.713-137G>C
ENST00000677934.1:c.635-137G>C	ENSP00000504769.1:n.635-137G>C
ENST00000221930.5:c.861-137G>C	ENSP00000221930.4:n.861-137G>C
ENST00000598758.5:c.149-137G>C
ENST00000600196.1:n.173-137G>C
NM_000660.5:c.861-137G>C	NP_000651.3:n.861-137G>C
XM_011527242.1:c.864-137G>C	XP_011525544.1:n.864-137G>C
NM_000660.6:c.861-137G>C	NP_000651.3:n.861-137G>C
XM_011527242.2:c.864-137G>C	XP_011525544.1:n.864-137G>C
NM_000660.7:c.861-137G>C MANE Select	NP_000651.3:n.861-137G>C