Canonical Allele Identifier: CA507555473

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038140862
• gnomAD v3: 19-41348331-G-A
• gnomAD v4: 19-41348331-G-A
• MyVariant Identifiers: chr19:g.41854236G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348331G>A , CM000681.2:g.41348331G>A	GRCh38
NC_000019.9:g.41854236G>A , CM000681.1:g.41854236G>A	GRCh37
NC_000019.8:g.46546076G>A	NCBI36
NG_013364.1:g.10596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.480C>T MANE Select	ENSP00000221930.4:p.Leu160=
ENST00000600196.2:c.480C>T	ENSP00000504008.1:p.Leu160=
ENST00000677934.1:c.480C>T	ENSP00000504769.1:p.Leu160=
ENST00000221930.5:c.480C>T	ENSP00000221930.4:p.Leu160=
ENST00000597453.1:n.11C>T
NM_000660.5:c.480C>T	NP_000651.3:p.Leu160=
XM_011527242.1:c.480C>T	XP_011525544.1:p.Leu160=
NM_000660.6:c.480C>T	NP_000651.3:p.Leu160=
XM_011527242.2:c.480C>T	XP_011525544.1:p.Leu160=
NM_000660.7:c.480C>T MANE Select	NP_000651.3:p.Leu160=