Canonical Allele Identifier: CA308569220

Gene: TGFB1

Linked Data

• dbSNP Id: rs985692714
• MyVariant Identifiers: chr19:g.41847799G>C (hg19) ; chr19:g.41341894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341894G>C , CM000681.2:g.41341894G>C	GRCh38
NC_000019.9:g.41847799G>C , CM000681.1:g.41847799G>C	GRCh37
NC_000019.8:g.46539639G>C	NCBI36
NG_013364.1:g.17033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.849C>G MANE Select	ENSP00000221930.4:p.Asn283Lys
ENST00000600196.2:c.712+276C>G	ENSP00000504008.1:n.712+276C>G
ENST00000677934.1:c.634+2853C>G	ENSP00000504769.1:n.634+2853C>G
ENST00000221930.5:c.849C>G	ENSP00000221930.4:p.Asn283Lys
ENST00000598758.5:c.137C>G
ENST00000600196.1:n.172+276C>G
NM_000660.5:c.849C>G	NP_000651.3:p.Asn283Lys
XM_011527242.1:c.852C>G	XP_011525544.1:p.Asn284Lys
NM_000660.6:c.849C>G	NP_000651.3:p.Asn283Lys
XM_011527242.2:c.852C>G	XP_011525544.1:p.Asn284Lys
NM_000660.7:c.849C>G MANE Select	NP_000651.3:p.Asn283Lys