Canonical Allele Identifier: CA405999995

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2093372
• ClinVar RCV Id: RCV003010023
• MyVariant Identifiers: chr19:g.41848122T>C (hg19) ; chr19:g.41342217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342217T>C , CM000681.2:g.41342217T>C	GRCh38
NC_000019.9:g.41848122T>C , CM000681.1:g.41848122T>C	GRCh37
NC_000019.8:g.46539962T>C	NCBI36
NG_013364.1:g.16710A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.665A>G MANE Select	ENSP00000221930.4:p.His222Arg
ENST00000600196.2:c.665A>G	ENSP00000504008.1:p.His222Arg
ENST00000677934.1:c.634+2530A>G	ENSP00000504769.1:n.634+2530A>G
ENST00000221930.5:c.665A>G	ENSP00000221930.4:p.His222Arg
ENST00000597453.1:n.196A>G
ENST00000600196.1:n.125A>G
NM_000660.5:c.665A>G	NP_000651.3:p.His222Arg
XM_011527242.1:c.665A>G	XP_011525544.1:p.His222Arg
NM_000660.6:c.665A>G	NP_000651.3:p.His222Arg
XM_011527242.2:c.665A>G	XP_011525544.1:p.His222Arg
NM_000660.7:c.665A>G MANE Select	NP_000651.3:p.His222Arg