Canonical Allele Identifier: CA1081884175
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751648553
gnomAD v3: 5-136056966-G-A
gnomAD v4: 5-136056966-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056966G>A , CM000667.2:g.136056966G>A GRCh38
NC_000005.9:g.135392655G>A , CM000667.1:g.135392655G>A GRCh37
NC_000005.8:g.135420554G>A NCBI36
NG_012646.1:g.33072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+171G>A MANE Select ENSP00000416330.2:n.1678+171G>A
ENST00000442011.6:c.1678+171G>A ENSP00000416330.2:n.1678+171G>A
ENST00000506699.5:n.2195+171G>A
ENST00000507018.5:c.1656+171G>A
ENST00000509485.5:c.675+171G>A
ENST00000514242.5:n.449+171G>A
ENST00000514554.5:c.830+171G>A
NM_000358.2:c.1678+171G>A NP_000349.1:n.1678+171G>A
NM_000358.3:c.1678+171G>A MANE Select NP_000349.1:n.1678+171G>A
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