Canonical Allele Identifier: CA9459986

Gene: TGFB1

Linked Data

• dbSNP Id: rs559265663
• ExAC: 19:41847830 C / T
• gnomAD v2: 19-41847830-C-T
• gnomAD v3: 19-41341925-C-T
• gnomAD v4: 19-41341925-C-T
• MyVariant Identifiers: chr19:g.41847830C>T (hg19) ; chr19:g.41341925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341925C>T , CM000681.2:g.41341925C>T	GRCh38
NC_000019.9:g.41847830C>T , CM000681.1:g.41847830C>T	GRCh37
NC_000019.8:g.46539670C>T	NCBI36
NG_013364.1:g.17002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.818G>A MANE Select	ENSP00000221930.4:p.Ser273Asn
ENST00000600196.2:c.712+245G>A	ENSP00000504008.1:n.712+245G>A
ENST00000677934.1:c.634+2822G>A	ENSP00000504769.1:n.634+2822G>A
ENST00000221930.5:c.818G>A	ENSP00000221930.4:p.Ser273Asn
ENST00000598758.5:c.106G>A
ENST00000600196.1:n.172+245G>A
NM_000660.5:c.818G>A	NP_000651.3:p.Ser273Asn
XM_011527242.1:c.821G>A	XP_011525544.1:p.Ser274Asn
NM_000660.6:c.818G>A	NP_000651.3:p.Ser273Asn
XM_011527242.2:c.821G>A	XP_011525544.1:p.Ser274Asn
NM_000660.7:c.818G>A MANE Select	NP_000651.3:p.Ser273Asn