Canonical Allele Identifier: CA9460158

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 2404786
• ClinVar RCV Id: RCV002759099
• dbSNP Id: rs777547933
• ExAC: 19:41858702 C / G
• gnomAD v2: 19-41858702-C-G
• gnomAD v3: 19-41352797-C-G
• gnomAD v4: 19-41352797-C-G
• MyVariant Identifiers: chr19:g.41858702C>G (hg19) ; chr19:g.41352797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352797C>G , CM000681.2:g.41352797C>G	GRCh38
NC_000019.9:g.41858702C>G , CM000681.1:g.41858702C>G	GRCh37
NC_000019.8:g.46550542C>G	NCBI36
NG_013091.1:g.16377G>C
NG_013364.1:g.6130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.248G>C (TGFB1) MANE Select	ENSP00000221930.4:p.Ser83Thr
ENST00000600196.2:c.248G>C (TGFB1)	ENSP00000504008.1:p.Ser83Thr
ENST00000677934.1:c.248G>C (TGFB1)	ENSP00000504769.1:p.Ser83Thr
ENST00000221930.5:c.248G>C (TGFB1)	ENSP00000221930.4:p.Ser83Thr
ENST00000539627.5:c.-30+1595C>G (TMEM91)	ENSP00000441900.1:n.-30+1595C>G
ENST00000604424.1:n.350+1595C>G
NM_000660.5:c.248G>C (TGFB1)	NP_000651.3:p.Ser83Thr
XM_011527242.1:c.248G>C (TGFB1)	XP_011525544.1:p.Ser83Thr
NM_000660.6:c.248G>C (TGFB1)	NP_000651.3:p.Ser83Thr
XM_011527242.2:c.248G>C (TGFB1)	XP_011525544.1:p.Ser83Thr
NM_000660.7:c.248G>C (TGFB1) MANE Select	NP_000651.3:p.Ser83Thr