Canonical Allele Identifier: CA633167505

Gene: TGFB1

Linked Data

• dbSNP Id: rs1348495235
• gnomAD v2: 19-41854168-G-A
• gnomAD v4: 19-41348263-G-A
• MyVariant Identifiers: chr19:g.41854168G>A (hg19) ; chr19:g.41348263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348263G>A , CM000681.2:g.41348263G>A	GRCh38
NC_000019.9:g.41854168G>A , CM000681.1:g.41854168G>A	GRCh37
NC_000019.8:g.46546008G>A	NCBI36
NG_013364.1:g.10664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+32C>T MANE Select	ENSP00000221930.4:n.516+32C>T
ENST00000600196.2:c.516+32C>T	ENSP00000504008.1:n.516+32C>T
ENST00000677934.1:c.516+32C>T	ENSP00000504769.1:n.516+32C>T
ENST00000221930.5:c.516+32C>T	ENSP00000221930.4:n.516+32C>T
ENST00000597453.1:n.47+32C>T
NM_000660.5:c.516+32C>T	NP_000651.3:n.516+32C>T
XM_011527242.1:c.516+32C>T	XP_011525544.1:n.516+32C>T
NM_000660.6:c.516+32C>T	NP_000651.3:n.516+32C>T
XM_011527242.2:c.516+32C>T	XP_011525544.1:n.516+32C>T
NM_000660.7:c.516+32C>T MANE Select	NP_000651.3:n.516+32C>T