Canonical Allele Identifier: CA361032666
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046405-C-G
MyVariant Identifiers: chr5:g.135382094C>G (hg19) chr5:g.136046405C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046405C>G , CM000667.2:g.136046405C>G GRCh38
NC_000005.9:g.135382094C>G , CM000667.1:g.135382094C>G GRCh37
NC_000005.8:g.135409993C>G NCBI36
NG_012646.1:g.22511C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.369C>G MANE Select ENSP00000416330.2:p.Asp123Glu
ENST00000442011.6:c.369C>G ENSP00000416330.2:p.Asp123Glu
ENST00000504185.5:n.526C>G
ENST00000506699.5:n.434C>G
ENST00000507018.5:c.286C>G
ENST00000515433.1:n.661C>G
NM_000358.2:c.369C>G NP_000349.1:p.Asp123Glu
NM_000358.3:c.369C>G MANE Select NP_000349.1:p.Asp123Glu
Search 100 bp 5'
Search 100 bp 3'