Canonical Allele Identifier: CA361039536
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055728-A-G
MyVariant Identifiers: chr5:g.135391417A>G (hg19) chr5:g.136055728A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055728A>G , CM000667.2:g.136055728A>G GRCh38
NC_000005.9:g.135391417A>G , CM000667.1:g.135391417A>G GRCh37
NC_000005.8:g.135419316A>G NCBI36
NG_012646.1:g.31834A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1459A>G MANE Select ENSP00000416330.2:p.Arg487Gly
ENST00000442011.6:c.1459A>G ENSP00000416330.2:p.Arg487Gly
ENST00000506699.5:n.1976A>G
ENST00000507018.5:c.1437A>G
ENST00000509485.5:c.374A>G
ENST00000514242.5:n.230A>G
ENST00000514554.5:c.611A>G
NM_000358.2:c.1459A>G NP_000349.1:p.Arg487Gly
NM_000358.3:c.1459A>G MANE Select NP_000349.1:p.Arg487Gly
Search 100 bp 5'
Search 100 bp 3'