Canonical Allele Identifier: CA361039211
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055683-C-A
MyVariant Identifiers: chr5:g.135391372C>A (hg19) chr5:g.136055683C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055683C>A , CM000667.2:g.136055683C>A GRCh38
NC_000005.9:g.135391372C>A , CM000667.1:g.135391372C>A GRCh37
NC_000005.8:g.135419271C>A NCBI36
NG_012646.1:g.31789C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1414C>A MANE Select ENSP00000416330.2:p.Leu472Ile
ENST00000442011.6:c.1414C>A ENSP00000416330.2:p.Leu472Ile
ENST00000506699.5:n.1931C>A
ENST00000507018.5:c.1392C>A
ENST00000509485.5:c.329C>A
ENST00000514242.5:n.185C>A
ENST00000514554.5:c.566C>A
NM_000358.2:c.1414C>A NP_000349.1:p.Leu472Ile
NM_000358.3:c.1414C>A MANE Select NP_000349.1:p.Leu472Ile
Search 100 bp 5'
Search 100 bp 3'