Canonical Allele Identifier: CA446551725
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135391374C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055685C>G , CM000667.2:g.136055685C>G GRCh38
NC_000005.9:g.135391374C>G , CM000667.1:g.135391374C>G GRCh37
NC_000005.8:g.135419273C>G NCBI36
NG_012646.1:g.31791C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1416C>G MANE Select ENSP00000416330.2:p.Leu472=
ENST00000442011.6:c.1416C>G ENSP00000416330.2:p.Leu472=
ENST00000506699.5:n.1933C>G
ENST00000507018.5:c.1394C>G
ENST00000509485.5:c.331C>G
ENST00000514242.5:n.187C>G
ENST00000514554.5:c.568C>G
NM_000358.2:c.1416C>G NP_000349.1:p.Leu472=
NM_000358.3:c.1416C>G MANE Select NP_000349.1:p.Leu472=
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