Canonical Allele Identifier: CA9459975

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 1629603
• ClinVar RCV Id: RCV002118430
• dbSNP Id: rs188080621
• ExAC: 19:41847770 C / G
• gnomAD v2: 19-41847770-C-G
• gnomAD v3: 19-41341865-C-G
• gnomAD v4: 19-41341865-C-G
• MyVariant Identifiers: chr19:g.41847770C>G (hg19) ; chr19:g.41341865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341865C>G , CM000681.2:g.41341865C>G	GRCh38
NC_000019.9:g.41847770C>G , CM000681.1:g.41847770C>G	GRCh37
NC_000019.8:g.46539610C>G	NCBI36
NG_013364.1:g.17062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.860+18G>C MANE Select	ENSP00000221930.4:n.860+18G>C
ENST00000600196.2:c.712+305G>C	ENSP00000504008.1:n.712+305G>C
ENST00000677934.1:c.634+2882G>C	ENSP00000504769.1:n.634+2882G>C
ENST00000221930.5:c.860+18G>C	ENSP00000221930.4:n.860+18G>C
ENST00000598758.5:c.148+18G>C
ENST00000600196.1:n.172+305G>C
NM_000660.5:c.860+18G>C	NP_000651.3:n.860+18G>C
XM_011527242.1:c.863+18G>C	XP_011525544.1:n.863+18G>C
NM_000660.6:c.860+18G>C	NP_000651.3:n.860+18G>C
XM_011527242.2:c.863+18G>C	XP_011525544.1:n.863+18G>C
NM_000660.7:c.860+18G>C MANE Select	NP_000651.3:n.860+18G>C