Canonical Allele Identifier: CA507689902

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41341930-C-G
• MyVariant Identifiers: chr19:g.41847835C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341930C>G , CM000681.2:g.41341930C>G	GRCh38
NC_000019.9:g.41847835C>G , CM000681.1:g.41847835C>G	GRCh37
NC_000019.8:g.46539675C>G	NCBI36
NG_013364.1:g.16997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.813G>C MANE Select	ENSP00000221930.4:p.Leu271=
ENST00000600196.2:c.712+240G>C	ENSP00000504008.1:n.712+240G>C
ENST00000677934.1:c.634+2817G>C	ENSP00000504769.1:n.634+2817G>C
ENST00000221930.5:c.813G>C	ENSP00000221930.4:p.Leu271=
ENST00000598758.5:c.101G>C
ENST00000600196.1:n.172+240G>C
NM_000660.5:c.813G>C	NP_000651.3:p.Leu271=
XM_011527242.1:c.816G>C	XP_011525544.1:p.Leu272=
NM_000660.6:c.813G>C	NP_000651.3:p.Leu271=
XM_011527242.2:c.816G>C	XP_011525544.1:p.Leu272=
NM_000660.7:c.813G>C MANE Select	NP_000651.3:p.Leu271=