Canonical Allele Identifier: CA308565963

Gene: TGFB1

Linked Data

• dbSNP Id: rs1006809599
• gnomAD v3: 19-41337567-A-G
• gnomAD v4: 19-41337567-A-G
• MyVariant Identifiers: chr19:g.41843472A>G (hg19) ; chr19:g.41337567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41337567A>G , CM000681.2:g.41337567A>G	GRCh38
NC_000019.9:g.41843472A>G , CM000681.1:g.41843472A>G	GRCh37
NC_000019.8:g.46535312A>G	NCBI36
NG_013364.1:g.21360T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.860+4316T>C MANE Select	ENSP00000221930.4:n.860+4316T>C
ENST00000600196.2:c.712+4603T>C	ENSP00000504008.1:n.712+4603T>C
ENST00000677934.1:c.635-5286T>C	ENSP00000504769.1:n.635-5286T>C
ENST00000221930.5:c.860+4316T>C	ENSP00000221930.4:n.860+4316T>C
ENST00000598758.5:c.148+4316T>C
ENST00000600196.1:n.172+4603T>C
NM_000660.5:c.860+4316T>C	NP_000651.3:n.860+4316T>C
XM_011527242.1:c.863+4316T>C	XP_011525544.1:n.863+4316T>C
NM_000660.6:c.860+4316T>C	NP_000651.3:n.860+4316T>C
XM_011527242.2:c.863+4316T>C	XP_011525544.1:n.863+4316T>C
NM_000660.7:c.860+4316T>C MANE Select	NP_000651.3:n.860+4316T>C