Canonical Allele Identifier: CA446551874
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135392450A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056761A>G , CM000667.2:g.136056761A>G GRCh38
NC_000005.9:g.135392450A>G , CM000667.1:g.135392450A>G GRCh37
NC_000005.8:g.135420349A>G NCBI36
NG_012646.1:g.32867A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1644A>G MANE Select ENSP00000416330.2:p.Arg548=
ENST00000442011.6:c.1644A>G ENSP00000416330.2:p.Arg548=
ENST00000506699.5:n.2161A>G
ENST00000507018.5:c.1622A>G
ENST00000509485.5:c.641A>G
ENST00000514242.5:n.415A>G
ENST00000514554.5:c.796A>G
NM_000358.2:c.1644A>G NP_000349.1:p.Arg548=
NM_000358.3:c.1644A>G MANE Select NP_000349.1:p.Arg548=
Search 100 bp 5'
Search 100 bp 3'