Canonical Allele Identifier: CA2573156381

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 1666426
• ClinVar RCV Id: RCV002186308
• dbSNP Id: rs2123098773
• gnomAD v4: 19-41342155-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342155G>A , CM000681.2:g.41342155G>A	GRCh38
NC_000019.9:g.41848060G>A , CM000681.1:g.41848060G>A	GRCh37
NC_000019.8:g.46539900G>A	NCBI36
NG_013364.1:g.16772C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.712+15C>T MANE Select	ENSP00000221930.4:n.712+15C>T
ENST00000600196.2:c.712+15C>T	ENSP00000504008.1:n.712+15C>T
ENST00000677934.1:c.634+2592C>T	ENSP00000504769.1:n.634+2592C>T
ENST00000221930.5:c.712+15C>T	ENSP00000221930.4:n.712+15C>T
ENST00000597453.1:n.258C>T
ENST00000600196.1:n.172+15C>T
NM_000660.5:c.712+15C>T	NP_000651.3:n.712+15C>T
XM_011527242.1:c.712+15C>T	XP_011525544.1:n.712+15C>T
NM_000660.6:c.712+15C>T	NP_000651.3:n.712+15C>T
XM_011527242.2:c.712+15C>T	XP_011525544.1:n.712+15C>T
NM_000660.7:c.712+15C>T MANE Select	NP_000651.3:n.712+15C>T