Canonical Allele Identifier: CA633167501

Gene: TGFB1

Linked Data

• dbSNP Id: rs1308980782
• gnomAD v2: 19-41854137-C-G
• gnomAD v3: 19-41348232-C-G
• gnomAD v4: 19-41348232-C-G
• MyVariant Identifiers: chr19:g.41854137C>G (hg19) ; chr19:g.41348232C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348232C>G , CM000681.2:g.41348232C>G	GRCh38
NC_000019.9:g.41854137C>G , CM000681.1:g.41854137C>G	GRCh37
NC_000019.8:g.46545977C>G	NCBI36
NG_013364.1:g.10695G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+63G>C MANE Select	ENSP00000221930.4:n.516+63G>C
ENST00000600196.2:c.516+63G>C	ENSP00000504008.1:n.516+63G>C
ENST00000677934.1:c.516+63G>C	ENSP00000504769.1:n.516+63G>C
ENST00000221930.5:c.516+63G>C	ENSP00000221930.4:n.516+63G>C
ENST00000597453.1:n.47+63G>C
NM_000660.5:c.516+63G>C	NP_000651.3:n.516+63G>C
XM_011527242.1:c.516+63G>C	XP_011525544.1:n.516+63G>C
NM_000660.6:c.516+63G>C	NP_000651.3:n.516+63G>C
XM_011527242.2:c.516+63G>C	XP_011525544.1:n.516+63G>C
NM_000660.7:c.516+63G>C MANE Select	NP_000651.3:n.516+63G>C