Canonical Allele Identifier: CA1081908560
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751419410
gnomAD v3: 5-136045978-T-G
gnomAD v4: 5-136045978-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136045978T>G , CM000667.2:g.136045978T>G GRCh38
NC_000005.9:g.135381667T>G , CM000667.1:g.135381667T>G GRCh37
NC_000005.8:g.135409566T>G NCBI36
NG_012646.1:g.22084T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-357T>G MANE Select ENSP00000416330.2:n.299-357T>G
ENST00000442011.6:c.299-357T>G ENSP00000416330.2:n.299-357T>G
ENST00000504185.5:n.456-357T>G
ENST00000506699.5:n.364-357T>G
ENST00000507018.5:c.216-357T>G
ENST00000515433.1:n.234T>G
NM_000358.2:c.299-357T>G NP_000349.1:n.299-357T>G
NM_000358.3:c.299-357T>G MANE Select NP_000349.1:n.299-357T>G
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