Canonical Allele Identifier: CA9459966
Gene: TGFB1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41332301G>A
GRCh37 chr19:g.41838206G>A
gnomAD v2:
19:41838206 G / A
gnomAD v3:
19:41332301 G / A
gnomAD v4:
chr19-41332301-G-A
Joint Max Group AF 0.24633139 (NFE)
Genomes Max Group AF 0.24240146 (NFE)
Exomes Max Group AF 0.24640445 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41332301G>A , CM000681.2:g.41332301G>A GRCh38
NC_000019.9:g.41838206G>A , CM000681.1:g.41838206G>A GRCh37
NC_000019.8:g.46530046G>A NCBI36
NG_013364.1:g.26626C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.861-20C>T MANE Select ENSP00000221930.4:n.861-20C>T
ENST00000600196.2:c.713-20C>T ENSP00000504008.1:n.713-20C>T
ENST00000677934.1:c.635-20C>T ENSP00000504769.1:n.635-20C>T
ENST00000221930.5:c.861-20C>T ENSP00000221930.4:n.861-20C>T
ENST00000598758.5:c.149-20C>T
ENST00000600196.1:n.173-20C>T
NM_000660.5:c.861-20C>T NP_000651.3:n.861-20C>T
XM_011527242.1:c.864-20C>T XP_011525544.1:n.864-20C>T
NM_000660.6:c.861-20C>T NP_000651.3:n.861-20C>T
XM_011527242.2:c.864-20C>T XP_011525544.1:n.864-20C>T
NM_000660.7:c.861-20C>T MANE Select NP_000651.3:n.861-20C>T
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