Canonical Allele Identifier: CA2697556592

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2693026
• ClinVar RCV Id: RCV003543314

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342164C>G , CM000681.2:g.41342164C>G	GRCh38
NC_000019.9:g.41848069C>G , CM000681.1:g.41848069C>G	GRCh37
NC_000019.8:g.46539909C>G	NCBI36
NG_013364.1:g.16763G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.712+6G>C MANE Select	ENSP00000221930.4:n.712+6G>C
ENST00000600196.2:c.712+6G>C	ENSP00000504008.1:n.712+6G>C
ENST00000677934.1:c.634+2583G>C	ENSP00000504769.1:n.634+2583G>C
ENST00000221930.5:c.712+6G>C	ENSP00000221930.4:n.712+6G>C
ENST00000597453.1:n.249G>C
ENST00000600196.1:n.172+6G>C
NM_000660.5:c.712+6G>C	NP_000651.3:n.712+6G>C
XM_011527242.1:c.712+6G>C	XP_011525544.1:n.712+6G>C
NM_000660.6:c.712+6G>C	NP_000651.3:n.712+6G>C
XM_011527242.2:c.712+6G>C	XP_011525544.1:n.712+6G>C
NM_000660.7:c.712+6G>C MANE Select	NP_000651.3:n.712+6G>C