Canonical Allele Identifier: CA633469972

Gene: TGFB1

Linked Data

• dbSNP Id: rs1420190011
• gnomAD v2: 19-41848059-G-A
• gnomAD v3: 19-41342154-G-A
• gnomAD v4: 19-41342154-G-A
• MyVariant Identifiers: chr19:g.41848059G>A (hg19) ; chr19:g.41342154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342154G>A , CM000681.2:g.41342154G>A	GRCh38
NC_000019.9:g.41848059G>A , CM000681.1:g.41848059G>A	GRCh37
NC_000019.8:g.46539899G>A	NCBI36
NG_013364.1:g.16773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.712+16C>T MANE Select	ENSP00000221930.4:n.712+16C>T
ENST00000600196.2:c.712+16C>T	ENSP00000504008.1:n.712+16C>T
ENST00000677934.1:c.634+2593C>T	ENSP00000504769.1:n.634+2593C>T
ENST00000221930.5:c.712+16C>T	ENSP00000221930.4:n.712+16C>T
ENST00000597453.1:n.259C>T
ENST00000600196.1:n.172+16C>T
NM_000660.5:c.712+16C>T	NP_000651.3:n.712+16C>T
XM_011527242.1:c.712+16C>T	XP_011525544.1:n.712+16C>T
NM_000660.6:c.712+16C>T	NP_000651.3:n.712+16C>T
XM_011527242.2:c.712+16C>T	XP_011525544.1:n.712+16C>T
NM_000660.7:c.712+16C>T MANE Select	NP_000651.3:n.712+16C>T