Canonical Allele Identifier: CA1584790856
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751420445
gnomAD v4: 5-136046047-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046047T>C , CM000667.2:g.136046047T>C GRCh38
NC_000005.9:g.135381736T>C , CM000667.1:g.135381736T>C GRCh37
NC_000005.8:g.135409635T>C NCBI36
NG_012646.1:g.22153T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-288T>C MANE Select ENSP00000416330.2:n.299-288T>C
ENST00000442011.6:c.299-288T>C ENSP00000416330.2:n.299-288T>C
ENST00000504185.5:n.456-288T>C
ENST00000506699.5:n.364-288T>C
ENST00000507018.5:c.216-288T>C
ENST00000515433.1:n.303T>C
NM_000358.2:c.299-288T>C NP_000349.1:n.299-288T>C
NM_000358.3:c.299-288T>C MANE Select NP_000349.1:n.299-288T>C
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