Canonical Allele Identifier: CA405999992

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41848121G>T (hg19) ; chr19:g.41342216G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342216G>T , CM000681.2:g.41342216G>T	GRCh38
NC_000019.9:g.41848121G>T , CM000681.1:g.41848121G>T	GRCh37
NC_000019.8:g.46539961G>T	NCBI36
NG_013364.1:g.16711C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.666C>A MANE Select	ENSP00000221930.4:p.His222Gln
ENST00000600196.2:c.666C>A	ENSP00000504008.1:p.His222Gln
ENST00000677934.1:c.634+2531C>A	ENSP00000504769.1:n.634+2531C>A
ENST00000221930.5:c.666C>A	ENSP00000221930.4:p.His222Gln
ENST00000597453.1:n.197C>A
ENST00000600196.1:n.126C>A
NM_000660.5:c.666C>A	NP_000651.3:p.His222Gln
XM_011527242.1:c.666C>A	XP_011525544.1:p.His222Gln
NM_000660.6:c.666C>A	NP_000651.3:p.His222Gln
XM_011527242.2:c.666C>A	XP_011525544.1:p.His222Gln
NM_000660.7:c.666C>A MANE Select	NP_000651.3:p.His222Gln