Canonical Allele Identifier: CA9460005

Gene: TGFB1

Linked Data

• dbSNP Id: rs530534755
• ExAC: 19:41847938 G / C
• gnomAD v2: 19-41847938-G-C
• gnomAD v3: 19-41342033-G-C
• gnomAD v4: 19-41342033-G-C
• MyVariant Identifiers: chr19:g.41847938G>C (hg19) ; chr19:g.41342033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342033G>C , CM000681.2:g.41342033G>C	GRCh38
NC_000019.9:g.41847938G>C , CM000681.1:g.41847938G>C	GRCh37
NC_000019.8:g.46539778G>C	NCBI36
NG_013364.1:g.16894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.713-3C>G MANE Select	ENSP00000221930.4:n.713-3C>G
ENST00000600196.2:c.712+137C>G	ENSP00000504008.1:n.712+137C>G
ENST00000677934.1:c.634+2714C>G	ENSP00000504769.1:n.634+2714C>G
ENST00000221930.5:c.713-3C>G	ENSP00000221930.4:n.713-3C>G
ENST00000597453.1:n.380C>G
ENST00000600196.1:n.172+137C>G
NM_000660.5:c.713-3C>G	NP_000651.3:n.713-3C>G
XM_011527242.1:c.713C>G	XP_011525544.1:p.Ala238Gly
NM_000660.6:c.713-3C>G	NP_000651.3:n.713-3C>G
XM_011527242.2:c.713C>G	XP_011525544.1:p.Ala238Gly
NM_000660.7:c.713-3C>G MANE Select	NP_000651.3:n.713-3C>G