Canonical Allele Identifier: CA308565892

Gene: TGFB1

Linked Data

• dbSNP Id: rs918148686
• gnomAD v2: 19-41843372-G-C
• gnomAD v3: 19-41337467-G-C
• gnomAD v4: 19-41337467-G-C
• MyVariant Identifiers: chr19:g.41843372G>C (hg19) ; chr19:g.41337467G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41337467G>C , CM000681.2:g.41337467G>C	GRCh38
NC_000019.9:g.41843372G>C , CM000681.1:g.41843372G>C	GRCh37
NC_000019.8:g.46535212G>C	NCBI36
NG_013364.1:g.21460C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.860+4416C>G MANE Select	ENSP00000221930.4:n.860+4416C>G
ENST00000600196.2:c.712+4703C>G	ENSP00000504008.1:n.712+4703C>G
ENST00000677934.1:c.635-5186C>G	ENSP00000504769.1:n.635-5186C>G
ENST00000221930.5:c.860+4416C>G	ENSP00000221930.4:n.860+4416C>G
ENST00000598758.5:c.148+4416C>G
ENST00000600196.1:n.172+4703C>G
NM_000660.5:c.860+4416C>G	NP_000651.3:n.860+4416C>G
XM_011527242.1:c.863+4416C>G	XP_011525544.1:n.863+4416C>G
NM_000660.6:c.860+4416C>G	NP_000651.3:n.860+4416C>G
XM_011527242.2:c.863+4416C>G	XP_011525544.1:n.863+4416C>G
NM_000660.7:c.860+4416C>G MANE Select	NP_000651.3:n.860+4416C>G