Canonical Allele Identifier: CA405998436

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41838093A>C (hg19) ; chr19:g.41332188A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332188A>C , CM000681.2:g.41332188A>C	GRCh38
NC_000019.9:g.41838093A>C , CM000681.1:g.41838093A>C	GRCh37
NC_000019.8:g.46529933A>C	NCBI36
NG_013364.1:g.26739T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.954T>G MANE Select	ENSP00000221930.4:p.His318Gln
ENST00000600196.2:c.806T>G	ENSP00000504008.1:p.Met269Arg
ENST00000677934.1:c.728T>G	ENSP00000504769.1:p.Met243Arg
ENST00000221930.5:c.954T>G	ENSP00000221930.4:p.His318Gln
ENST00000598758.5:c.242T>G
ENST00000600196.1:n.266T>G
NM_000660.5:c.954T>G	NP_000651.3:p.His318Gln
XM_011527242.1:c.957T>G	XP_011525544.1:p.His319Gln
NM_000660.6:c.954T>G	NP_000651.3:p.His318Gln
XM_011527242.2:c.957T>G	XP_011525544.1:p.His319Gln
NM_000660.7:c.954T>G MANE Select	NP_000651.3:p.His318Gln