Canonical Allele Identifier: CA405998644

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41838156C>A (hg19) ; chr19:g.41332251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332251C>A , CM000681.2:g.41332251C>A	GRCh38
NC_000019.9:g.41838156C>A , CM000681.1:g.41838156C>A	GRCh37
NC_000019.8:g.46529996C>A	NCBI36
NG_013364.1:g.26676G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.891G>T MANE Select	ENSP00000221930.4:p.Gln297His
ENST00000600196.2:c.743G>T	ENSP00000504008.1:p.Ser248Ile
ENST00000677934.1:c.665G>T	ENSP00000504769.1:p.Ser222Ile
ENST00000221930.5:c.891G>T	ENSP00000221930.4:p.Gln297His
ENST00000598758.5:c.179G>T
ENST00000600196.1:n.203G>T
NM_000660.5:c.891G>T	NP_000651.3:p.Gln297His
XM_011527242.1:c.894G>T	XP_011525544.1:p.Gln298His
NM_000660.6:c.891G>T	NP_000651.3:p.Gln297His
XM_011527242.2:c.894G>T	XP_011525544.1:p.Gln298His
NM_000660.7:c.891G>T MANE Select	NP_000651.3:p.Gln297His