Canonical Allele Identifier: CA406000082

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41342245-C-T
• COSMIC: COSM4892556
• MyVariant Identifiers: chr19:g.41848150C>T (hg19) ; chr19:g.41342245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342245C>T , CM000681.2:g.41342245C>T	GRCh38
NC_000019.9:g.41848150C>T , CM000681.1:g.41848150C>T	GRCh37
NC_000019.8:g.46539990C>T	NCBI36
NG_013364.1:g.16682G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.637G>A MANE Select	ENSP00000221930.4:p.Glu213Lys
ENST00000600196.2:c.637G>A	ENSP00000504008.1:p.Glu213Lys
ENST00000677934.1:c.634+2502G>A	ENSP00000504769.1:n.634+2502G>A
ENST00000221930.5:c.637G>A	ENSP00000221930.4:p.Glu213Lys
ENST00000597453.1:n.168G>A
ENST00000600196.1:n.97G>A
NM_000660.5:c.637G>A	NP_000651.3:p.Glu213Lys
XM_011527242.1:c.637G>A	XP_011525544.1:p.Glu213Lys
NM_000660.6:c.637G>A	NP_000651.3:p.Glu213Lys
XM_011527242.2:c.637G>A	XP_011525544.1:p.Glu213Lys
NM_000660.7:c.637G>A MANE Select	NP_000651.3:p.Glu213Lys