Canonical Allele Identifier: CA9460007

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2129317
• ClinVar RCV Id: RCV003040480
• dbSNP Id: rs377448414
• ExAC: 19:41847954 C / A
• gnomAD v2: 19-41847954-C-A
• gnomAD v3: 19-41342049-C-A
• gnomAD v4: 19-41342049-C-A
• MyVariant Identifiers: chr19:g.41847954C>A (hg19) ; chr19:g.41847954_41847956delinsAAG (hg19) ; chr19:g.41342049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342049C>A , CM000681.2:g.41342049C>A	GRCh38
NC_000019.9:g.41847954C>A , CM000681.1:g.41847954C>A	GRCh37
NC_000019.8:g.46539794C>A	NCBI36
NG_013364.1:g.16878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.713-19G>T MANE Select	ENSP00000221930.4:n.713-19G>T
ENST00000600196.2:c.712+121G>T	ENSP00000504008.1:n.712+121G>T
ENST00000677934.1:c.634+2698G>T	ENSP00000504769.1:n.634+2698G>T
ENST00000221930.5:c.713-19G>T	ENSP00000221930.4:n.713-19G>T
ENST00000597453.1:n.364G>T
ENST00000600196.1:n.172+121G>T
NM_000660.5:c.713-19G>T	NP_000651.3:n.713-19G>T
XM_011527242.1:c.713-16G>T	XP_011525544.1:n.713-16G>T
NM_000660.6:c.713-19G>T	NP_000651.3:n.713-19G>T
XM_011527242.2:c.713-16G>T	XP_011525544.1:n.713-16G>T
NM_000660.7:c.713-19G>T MANE Select	NP_000651.3:n.713-19G>T