Canonical Allele Identifier: CA507689878

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41341918-C-T
• MyVariant Identifiers: chr19:g.41847823C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341918C>T , CM000681.2:g.41341918C>T	GRCh38
NC_000019.9:g.41847823C>T , CM000681.1:g.41847823C>T	GRCh37
NC_000019.8:g.46539663C>T	NCBI36
NG_013364.1:g.17009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.825G>A MANE Select	ENSP00000221930.4:p.Arg275=
ENST00000600196.2:c.712+252G>A	ENSP00000504008.1:n.712+252G>A
ENST00000677934.1:c.634+2829G>A	ENSP00000504769.1:n.634+2829G>A
ENST00000221930.5:c.825G>A	ENSP00000221930.4:p.Arg275=
ENST00000598758.5:c.113G>A
ENST00000600196.1:n.172+252G>A
NM_000660.5:c.825G>A	NP_000651.3:p.Arg275=
XM_011527242.1:c.828G>A	XP_011525544.1:p.Arg276=
NM_000660.6:c.825G>A	NP_000651.3:p.Arg275=
XM_011527242.2:c.828G>A	XP_011525544.1:p.Arg276=
NM_000660.7:c.825G>A MANE Select	NP_000651.3:p.Arg275=