Canonical Allele Identifier: CA9460186

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1473460
• ClinVar RCV Id: RCV001977572
• dbSNP Id: rs1800470
• ExAC: 19:41858921 G / C
• gnomAD v2: 19-41858921-G-C
• gnomAD v3: 19-41353016-G-C
• gnomAD v4: 19-41353016-G-C
• MyVariant Identifiers: chr19:g.41858921G>C (hg19) ; chr19:g.41353016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353016G>C , CM000681.2:g.41353016G>C	GRCh38
NC_000019.9:g.41858921G>C , CM000681.1:g.41858921G>C	GRCh37
NC_000019.8:g.46550761G>C	NCBI36
NG_013091.1:g.16158C>G
NG_013364.1:g.5911C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.29C>G (TGFB1) MANE Select	ENSP00000221930.4:p.Pro10Arg
ENST00000600196.2:c.29C>G (TGFB1)	ENSP00000504008.1:p.Pro10Arg
ENST00000677934.1:c.29C>G (TGFB1)	ENSP00000504769.1:p.Pro10Arg
ENST00000221930.5:c.29C>G (TGFB1)	ENSP00000221930.4:p.Pro10Arg
ENST00000539627.5:c.-30+1814G>C (TMEM91)	ENSP00000441900.1:n.-30+1814G>C
ENST00000604424.1:n.350+1814G>C
NM_000660.5:c.29C>G (TGFB1)	NP_000651.3:p.Pro10Arg
XM_011527242.1:c.29C>G (TGFB1)	XP_011525544.1:p.Pro10Arg
NM_000660.6:c.29C>G (TGFB1)	NP_000651.3:p.Pro10Arg
XM_011527242.2:c.29C>G (TGFB1)	XP_011525544.1:p.Pro10Arg
NM_000660.7:c.29C>G (TGFB1) MANE Select	NP_000651.3:p.Pro10Arg