Canonical Allele Identifier: CA2675397170
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055635-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055635G>A , CM000667.2:g.136055635G>A GRCh38
NC_000005.9:g.135391324G>A , CM000667.1:g.135391324G>A GRCh37
NC_000005.8:g.135419223G>A NCBI36
NG_012646.1:g.31741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-45G>A MANE Select ENSP00000416330.2:n.1411-45G>A
ENST00000442011.6:c.1411-45G>A ENSP00000416330.2:n.1411-45G>A
ENST00000506699.5:n.1928-45G>A
ENST00000507018.5:c.1389-45G>A
ENST00000509485.5:c.326-45G>A
ENST00000514242.5:n.137G>A
ENST00000514554.5:c.563-45G>A
NM_000358.2:c.1411-45G>A NP_000349.1:n.1411-45G>A
NM_000358.3:c.1411-45G>A MANE Select NP_000349.1:n.1411-45G>A
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