Canonical Allele Identifier: CA405999358

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41341936-C-G
• MyVariant Identifiers: chr19:g.41847841C>G (hg19) ; chr19:g.41341936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341936C>G , CM000681.2:g.41341936C>G	GRCh38
NC_000019.9:g.41847841C>G , CM000681.1:g.41847841C>G	GRCh37
NC_000019.8:g.46539681C>G	NCBI36
NG_013364.1:g.16991G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.807G>C MANE Select	ENSP00000221930.4:p.Gln269His
ENST00000600196.2:c.712+234G>C	ENSP00000504008.1:n.712+234G>C
ENST00000677934.1:c.634+2811G>C	ENSP00000504769.1:n.634+2811G>C
ENST00000221930.5:c.807G>C	ENSP00000221930.4:p.Gln269His
ENST00000598758.5:c.95G>C
ENST00000600196.1:n.172+234G>C
NM_000660.5:c.807G>C	NP_000651.3:p.Gln269His
XM_011527242.1:c.810G>C	XP_011525544.1:p.Gln270His
NM_000660.6:c.807G>C	NP_000651.3:p.Gln269His
XM_011527242.2:c.810G>C	XP_011525544.1:p.Gln270His
NM_000660.7:c.807G>C MANE Select	NP_000651.3:p.Gln269His