Canonical Allele Identifier: CA9460018

Gene: TGFB1

Linked Data

• dbSNP Id: rs200004228
• ExAC: 19:41848033 A / G
• gnomAD v2: 19-41848033-A-G
• gnomAD v3: 19-41342128-A-G
• gnomAD v4: 19-41342128-A-G
• MyVariant Identifiers: chr19:g.41848033A>G (hg19) ; chr19:g.41342128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342128A>G , CM000681.2:g.41342128A>G	GRCh38
NC_000019.9:g.41848033A>G , CM000681.1:g.41848033A>G	GRCh37
NC_000019.8:g.46539873A>G	NCBI36
NG_013364.1:g.16799T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.712+42T>C MANE Select	ENSP00000221930.4:n.712+42T>C
ENST00000600196.2:c.712+42T>C	ENSP00000504008.1:n.712+42T>C
ENST00000677934.1:c.634+2619T>C	ENSP00000504769.1:n.634+2619T>C
ENST00000221930.5:c.712+42T>C	ENSP00000221930.4:n.712+42T>C
ENST00000597453.1:n.285T>C
ENST00000600196.1:n.172+42T>C
NM_000660.5:c.712+42T>C	NP_000651.3:n.712+42T>C
XM_011527242.1:c.712+42T>C	XP_011525544.1:n.712+42T>C
NM_000660.6:c.712+42T>C	NP_000651.3:n.712+42T>C
XM_011527242.2:c.712+42T>C	XP_011525544.1:n.712+42T>C
NM_000660.7:c.712+42T>C MANE Select	NP_000651.3:n.712+42T>C