Canonical Allele Identifier: CA405999274

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41341899-T-C
• MyVariant Identifiers: chr19:g.41847804T>C (hg19) ; chr19:g.41341899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341899T>C , CM000681.2:g.41341899T>C	GRCh38
NC_000019.9:g.41847804T>C , CM000681.1:g.41847804T>C	GRCh37
NC_000019.8:g.46539644T>C	NCBI36
NG_013364.1:g.17028A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.844A>G MANE Select	ENSP00000221930.4:p.Thr282Ala
ENST00000600196.2:c.712+271A>G	ENSP00000504008.1:n.712+271A>G
ENST00000677934.1:c.634+2848A>G	ENSP00000504769.1:n.634+2848A>G
ENST00000221930.5:c.844A>G	ENSP00000221930.4:p.Thr282Ala
ENST00000598758.5:c.132A>G
ENST00000600196.1:n.172+271A>G
NM_000660.5:c.844A>G	NP_000651.3:p.Thr282Ala
XM_011527242.1:c.847A>G	XP_011525544.1:p.Thr283Ala
NM_000660.6:c.844A>G	NP_000651.3:p.Thr282Ala
XM_011527242.2:c.847A>G	XP_011525544.1:p.Thr283Ala
NM_000660.7:c.844A>G MANE Select	NP_000651.3:p.Thr282Ala