Canonical Allele Identifier: CA507689675

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038061705
• MyVariant Identifiers: chr19:g.41847931G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342026G>A , CM000681.2:g.41342026G>A	GRCh38
NC_000019.9:g.41847931G>A , CM000681.1:g.41847931G>A	GRCh37
NC_000019.8:g.46539771G>A	NCBI36
NG_013364.1:g.16901C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.717C>T MANE Select	ENSP00000221930.4:p.Phe239=
ENST00000600196.2:c.712+144C>T	ENSP00000504008.1:n.712+144C>T
ENST00000677934.1:c.634+2721C>T	ENSP00000504769.1:n.634+2721C>T
ENST00000221930.5:c.717C>T	ENSP00000221930.4:p.Phe239=
ENST00000597453.1:n.387C>T
ENST00000598758.5:c.5C>T
ENST00000600196.1:n.172+144C>T
NM_000660.5:c.717C>T	NP_000651.3:p.Phe239=
XM_011527242.1:c.720C>T	XP_011525544.1:p.Phe240=
NM_000660.6:c.717C>T	NP_000651.3:p.Phe239=
XM_011527242.2:c.720C>T	XP_011525544.1:p.Phe240=
NM_000660.7:c.717C>T MANE Select	NP_000651.3:p.Phe239=