Canonical Allele Identifier: CA405999282

Gene: TGFB1

Linked Data

• dbSNP Id: rs1348401868
• MyVariant Identifiers: chr19:g.41847807C>G (hg19) ; chr19:g.41341902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341902C>G , CM000681.2:g.41341902C>G	GRCh38
NC_000019.9:g.41847807C>G , CM000681.1:g.41847807C>G	GRCh37
NC_000019.8:g.46539647C>G	NCBI36
NG_013364.1:g.17025G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.841G>C MANE Select	ENSP00000221930.4:p.Asp281His
ENST00000600196.2:c.712+268G>C	ENSP00000504008.1:n.712+268G>C
ENST00000677934.1:c.634+2845G>C	ENSP00000504769.1:n.634+2845G>C
ENST00000221930.5:c.841G>C	ENSP00000221930.4:p.Asp281His
ENST00000598758.5:c.129G>C
ENST00000600196.1:n.172+268G>C
NM_000660.5:c.841G>C	NP_000651.3:p.Asp281His
XM_011527242.1:c.844G>C	XP_011525544.1:p.Asp282His
NM_000660.6:c.841G>C	NP_000651.3:p.Asp281His
XM_011527242.2:c.844G>C	XP_011525544.1:p.Asp282His
NM_000660.7:c.841G>C MANE Select	NP_000651.3:p.Asp281His