Canonical Allele Identifier: CA361032673
Gene: TGFBI HGNC NCBI

Linked Data

COSMIC: COSM3608668
MyVariant Identifiers: chr5:g.135382101G>A (hg19) chr5:g.136046412G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046412G>A , CM000667.2:g.136046412G>A GRCh38
NC_000005.9:g.135382101G>A , CM000667.1:g.135382101G>A GRCh37
NC_000005.8:g.135410000G>A NCBI36
NG_012646.1:g.22518G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.376G>A MANE Select ENSP00000416330.2:p.Glu126Lys
ENST00000442011.6:c.376G>A ENSP00000416330.2:p.Glu126Lys
ENST00000504185.5:n.533G>A
ENST00000506699.5:n.441G>A
ENST00000507018.5:c.293G>A
ENST00000515433.1:n.668G>A
NM_000358.2:c.376G>A NP_000349.1:p.Glu126Lys
NM_000358.3:c.376G>A MANE Select NP_000349.1:p.Glu126Lys
Search 100 bp 5'
Search 100 bp 3'