Canonical Allele Identifier: CA2675393507
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046137-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046137G>T , CM000667.2:g.136046137G>T GRCh38
NC_000005.9:g.135381826G>T , CM000667.1:g.135381826G>T GRCh37
NC_000005.8:g.135409725G>T NCBI36
NG_012646.1:g.22243G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-198G>T MANE Select ENSP00000416330.2:n.299-198G>T
ENST00000442011.6:c.299-198G>T ENSP00000416330.2:n.299-198G>T
ENST00000504185.5:n.456-198G>T
ENST00000506699.5:n.364-198G>T
ENST00000507018.5:c.216-198G>T
ENST00000515433.1:n.393G>T
NM_000358.2:c.299-198G>T NP_000349.1:n.299-198G>T
NM_000358.3:c.299-198G>T MANE Select NP_000349.1:n.299-198G>T
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