Canonical Allele Identifier: CA804298756
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1273617880
gnomAD v3: 5-136056862-A-G
gnomAD v4: 5-136056862-A-G
MyVariant Identifiers: chr5:g.135392551A>G (hg19) chr5:g.136056862A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056862A>G , CM000667.2:g.136056862A>G GRCh38
NC_000005.9:g.135392551A>G , CM000667.1:g.135392551A>G GRCh37
NC_000005.8:g.135420450A>G NCBI36
NG_012646.1:g.32968A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+67A>G MANE Select ENSP00000416330.2:n.1678+67A>G
ENST00000442011.6:c.1678+67A>G ENSP00000416330.2:n.1678+67A>G
ENST00000506699.5:n.2195+67A>G
ENST00000507018.5:c.1656+67A>G
ENST00000509485.5:c.675+67A>G
ENST00000514242.5:n.449+67A>G
ENST00000514554.5:c.830+67A>G
NM_000358.2:c.1678+67A>G NP_000349.1:n.1678+67A>G
NM_000358.3:c.1678+67A>G MANE Select NP_000349.1:n.1678+67A>G
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