Canonical Allele Identifier: CA406003501

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2851791
• ClinVar RCV Id: RCV003693290
• gnomAD v4: 19-41348312-G-C
• MyVariant Identifiers: chr19:g.41854217G>C (hg19) ; chr19:g.41348312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348312G>C , CM000681.2:g.41348312G>C	GRCh38
NC_000019.9:g.41854217G>C , CM000681.1:g.41854217G>C	GRCh37
NC_000019.8:g.46546057G>C	NCBI36
NG_013364.1:g.10615C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.499C>G MANE Select	ENSP00000221930.4:p.His167Asp
ENST00000600196.2:c.499C>G	ENSP00000504008.1:p.His167Asp
ENST00000677934.1:c.499C>G	ENSP00000504769.1:p.His167Asp
ENST00000221930.5:c.499C>G	ENSP00000221930.4:p.His167Asp
ENST00000597453.1:n.30C>G
NM_000660.5:c.499C>G	NP_000651.3:p.His167Asp
XM_011527242.1:c.499C>G	XP_011525544.1:p.His167Asp
NM_000660.6:c.499C>G	NP_000651.3:p.His167Asp
XM_011527242.2:c.499C>G	XP_011525544.1:p.His167Asp
NM_000660.7:c.499C>G MANE Select	NP_000651.3:p.His167Asp