Canonical Allele Identifier: CA995960947

Gene: TGFB1

Linked Data

• gnomAD v3: 19-41348123-A-C
• gnomAD v4: 19-41348123-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348123A>C , CM000681.2:g.41348123A>C	GRCh38
NC_000019.9:g.41854028A>C , CM000681.1:g.41854028A>C	GRCh37
NC_000019.8:g.46545868A>C	NCBI36
NG_013364.1:g.10804T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.516+172T>G MANE Select	ENSP00000221930.4:n.516+172T>G
ENST00000600196.2:c.516+172T>G	ENSP00000504008.1:n.516+172T>G
ENST00000677934.1:c.516+172T>G	ENSP00000504769.1:n.516+172T>G
ENST00000221930.5:c.516+172T>G	ENSP00000221930.4:n.516+172T>G
ENST00000597453.1:n.47+172T>G
NM_000660.5:c.516+172T>G	NP_000651.3:n.516+172T>G
XM_011527242.1:c.516+172T>G	XP_011525544.1:n.516+172T>G
NM_000660.6:c.516+172T>G	NP_000651.3:n.516+172T>G
XM_011527242.2:c.516+172T>G	XP_011525544.1:n.516+172T>G
NM_000660.7:c.516+172T>G MANE Select	NP_000651.3:n.516+172T>G