Canonical Allele Identifier: CA3420413
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs775346438
ExAC: 5:135391426 A / G
gnomAD v2: 5-135391426-A-G
gnomAD v3: 5-136055737-A-G
gnomAD v4: 5-136055737-A-G
MyVariant Identifiers: chr5:g.135391426A>G (hg19) chr5:g.136055737A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055737A>G , CM000667.2:g.136055737A>G GRCh38
NC_000005.9:g.135391426A>G , CM000667.1:g.135391426A>G GRCh37
NC_000005.8:g.135419325A>G NCBI36
NG_012646.1:g.31843A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1468A>G MANE Select ENSP00000416330.2:p.Thr490Ala
ENST00000442011.6:c.1468A>G ENSP00000416330.2:p.Thr490Ala
ENST00000506699.5:n.1985A>G
ENST00000507018.5:c.1446A>G
ENST00000509485.5:c.383A>G
ENST00000514242.5:n.239A>G
ENST00000514554.5:c.620A>G
NM_000358.2:c.1468A>G NP_000349.1:p.Thr490Ala
NM_000358.3:c.1468A>G MANE Select NP_000349.1:p.Thr490Ala
Search 100 bp 5'
Search 100 bp 3'