Canonical Allele Identifier: CA406000087

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41342248-C-A
• MyVariant Identifiers: chr19:g.41848153C>A (hg19) ; chr19:g.41342248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342248C>A , CM000681.2:g.41342248C>A	GRCh38
NC_000019.9:g.41848153C>A , CM000681.1:g.41848153C>A	GRCh37
NC_000019.8:g.46539993C>A	NCBI36
NG_013364.1:g.16679G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.635-1G>T MANE Select	ENSP00000221930.4:n.635-1G>T
ENST00000600196.2:c.635-1G>T	ENSP00000504008.1:n.635-1G>T
ENST00000677934.1:c.634+2499G>T	ENSP00000504769.1:n.634+2499G>T
ENST00000221930.5:c.635-1G>T	ENSP00000221930.4:n.635-1G>T
ENST00000597453.1:n.166-1G>T
ENST00000600196.1:n.95-1G>T
NM_000660.5:c.635-1G>T	NP_000651.3:n.635-1G>T
XM_011527242.1:c.635-1G>T	XP_011525544.1:n.635-1G>T
NM_000660.6:c.635-1G>T	NP_000651.3:n.635-1G>T
XM_011527242.2:c.635-1G>T	XP_011525544.1:n.635-1G>T
NM_000660.7:c.635-1G>T MANE Select	NP_000651.3:n.635-1G>T