Canonical Allele Identifier: CA9460148

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 2969295
• ClinVar RCV Id: RCV003826965
• dbSNP Id: rs761100949
• ExAC: 19:41858658 C / T
• gnomAD v2: 19-41858658-C-T
• gnomAD v3: 19-41352753-C-T
• gnomAD v4: 19-41352753-C-T
• MyVariant Identifiers: chr19:g.41858658C>T (hg19) ; chr19:g.41352753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352753C>T , CM000681.2:g.41352753C>T	GRCh38
NC_000019.9:g.41858658C>T , CM000681.1:g.41858658C>T	GRCh37
NC_000019.8:g.46550498C>T	NCBI36
NG_013091.1:g.16421G>A
NG_013364.1:g.6174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.292G>A (TGFB1) MANE Select	ENSP00000221930.4:p.Glu98Lys
ENST00000600196.2:c.292G>A (TGFB1)	ENSP00000504008.1:p.Glu98Lys
ENST00000677934.1:c.292G>A (TGFB1)	ENSP00000504769.1:p.Glu98Lys
ENST00000221930.5:c.292G>A (TGFB1)	ENSP00000221930.4:p.Glu98Lys
ENST00000539627.5:c.-30+1551C>T (TMEM91)	ENSP00000441900.1:n.-30+1551C>T
ENST00000604424.1:n.350+1551C>T
NM_000660.5:c.292G>A (TGFB1)	NP_000651.3:p.Glu98Lys
XM_011527242.1:c.292G>A (TGFB1)	XP_011525544.1:p.Glu98Lys
NM_000660.6:c.292G>A (TGFB1)	NP_000651.3:p.Glu98Lys
XM_011527242.2:c.292G>A (TGFB1)	XP_011525544.1:p.Glu98Lys
NM_000660.7:c.292G>A (TGFB1) MANE Select	NP_000651.3:p.Glu98Lys