Canonical Allele Identifier: CA1584796874
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751615666
gnomAD v4: 5-136055652-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055652T>A , CM000667.2:g.136055652T>A GRCh38
NC_000005.9:g.135391341T>A , CM000667.1:g.135391341T>A GRCh37
NC_000005.8:g.135419240T>A NCBI36
NG_012646.1:g.31758T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-28T>A MANE Select ENSP00000416330.2:n.1411-28T>A
ENST00000442011.6:c.1411-28T>A ENSP00000416330.2:n.1411-28T>A
ENST00000506699.5:n.1928-28T>A
ENST00000507018.5:c.1389-28T>A
ENST00000509485.5:c.326-28T>A
ENST00000514242.5:n.154T>A
ENST00000514554.5:c.563-28T>A
NM_000358.2:c.1411-28T>A NP_000349.1:n.1411-28T>A
NM_000358.3:c.1411-28T>A MANE Select NP_000349.1:n.1411-28T>A
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