Canonical Allele Identifier: CA2675398376
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136056916-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056916G>C , CM000667.2:g.136056916G>C GRCh38
NC_000005.9:g.135392605G>C , CM000667.1:g.135392605G>C GRCh37
NC_000005.8:g.135420504G>C NCBI36
NG_012646.1:g.33022G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+121G>C MANE Select ENSP00000416330.2:n.1678+121G>C
ENST00000442011.6:c.1678+121G>C ENSP00000416330.2:n.1678+121G>C
ENST00000506699.5:n.2195+121G>C
ENST00000507018.5:c.1656+121G>C
ENST00000509485.5:c.675+121G>C
ENST00000514242.5:n.449+121G>C
ENST00000514554.5:c.830+121G>C
NM_000358.2:c.1678+121G>C NP_000349.1:n.1678+121G>C
NM_000358.3:c.1678+121G>C MANE Select NP_000349.1:n.1678+121G>C
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