Canonical Allele Identifier: CA406000020

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2771957
• ClinVar RCV Id: RCV003574514
• MyVariant Identifiers: chr19:g.41848128C>T (hg19) ; chr19:g.41342223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342223C>T , CM000681.2:g.41342223C>T	GRCh38
NC_000019.9:g.41848128C>T , CM000681.1:g.41848128C>T	GRCh37
NC_000019.8:g.46539968C>T	NCBI36
NG_013364.1:g.16704G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.659G>A MANE Select	ENSP00000221930.4:p.Ser220Asn
ENST00000600196.2:c.659G>A	ENSP00000504008.1:p.Ser220Asn
ENST00000677934.1:c.634+2524G>A	ENSP00000504769.1:n.634+2524G>A
ENST00000221930.5:c.659G>A	ENSP00000221930.4:p.Ser220Asn
ENST00000597453.1:n.190G>A
ENST00000600196.1:n.119G>A
NM_000660.5:c.659G>A	NP_000651.3:p.Ser220Asn
XM_011527242.1:c.659G>A	XP_011525544.1:p.Ser220Asn
NM_000660.6:c.659G>A	NP_000651.3:p.Ser220Asn
XM_011527242.2:c.659G>A	XP_011525544.1:p.Ser220Asn
NM_000660.7:c.659G>A MANE Select	NP_000651.3:p.Ser220Asn