Canonical Allele Identifier: CA406003751

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038142501
• gnomAD v4: 19-41348418-T-C
• MyVariant Identifiers: chr19:g.41854323T>C (hg19) ; chr19:g.41348418T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348418T>C , CM000681.2:g.41348418T>C	GRCh38
NC_000019.9:g.41854323T>C , CM000681.1:g.41854323T>C	GRCh37
NC_000019.8:g.46546163T>C	NCBI36
NG_013364.1:g.10509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.393A>G MANE Select	ENSP00000221930.4:p.Ile131Met
ENST00000600196.2:c.393A>G	ENSP00000504008.1:p.Ile131Met
ENST00000677934.1:c.393A>G	ENSP00000504769.1:p.Ile131Met
ENST00000221930.5:c.393A>G	ENSP00000221930.4:p.Ile131Met
NM_000660.5:c.393A>G	NP_000651.3:p.Ile131Met
XM_011527242.1:c.393A>G	XP_011525544.1:p.Ile131Met
NM_000660.6:c.393A>G	NP_000651.3:p.Ile131Met
XM_011527242.2:c.393A>G	XP_011525544.1:p.Ile131Met
NM_000660.7:c.393A>G MANE Select	NP_000651.3:p.Ile131Met