Canonical Allele Identifier: CA9459979

Gene: TGFB1

Linked Data

• dbSNP Id: rs749275172
• ExAC: 19:41847797 T / C
• gnomAD v2: 19-41847797-T-C
• gnomAD v4: 19-41341892-T-C
• MyVariant Identifiers: chr19:g.41847797T>C (hg19) ; chr19:g.41341892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341892T>C , CM000681.2:g.41341892T>C	GRCh38
NC_000019.9:g.41847797T>C , CM000681.1:g.41847797T>C	GRCh37
NC_000019.8:g.46539637T>C	NCBI36
NG_013364.1:g.17035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.851A>G MANE Select	ENSP00000221930.4:p.Tyr284Cys
ENST00000600196.2:c.712+278A>G	ENSP00000504008.1:n.712+278A>G
ENST00000677934.1:c.634+2855A>G	ENSP00000504769.1:n.634+2855A>G
ENST00000221930.5:c.851A>G	ENSP00000221930.4:p.Tyr284Cys
ENST00000598758.5:c.139A>G
ENST00000600196.1:n.172+278A>G
NM_000660.5:c.851A>G	NP_000651.3:p.Tyr284Cys
XM_011527242.1:c.854A>G	XP_011525544.1:p.Tyr285Cys
NM_000660.6:c.851A>G	NP_000651.3:p.Tyr284Cys
XM_011527242.2:c.854A>G	XP_011525544.1:p.Tyr285Cys
NM_000660.7:c.851A>G MANE Select	NP_000651.3:p.Tyr284Cys