Canonical Allele Identifier: CA128051551
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs990486053
gnomAD v2: 5-135381815-C-A
gnomAD v3: 5-136046126-C-A
gnomAD v4: 5-136046126-C-A
MyVariant Identifiers: chr5:g.135381815C>A (hg19) chr5:g.136046126C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046126C>A , CM000667.2:g.136046126C>A GRCh38
NC_000005.9:g.135381815C>A , CM000667.1:g.135381815C>A GRCh37
NC_000005.8:g.135409714C>A NCBI36
NG_012646.1:g.22232C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-209C>A MANE Select ENSP00000416330.2:n.299-209C>A
ENST00000442011.6:c.299-209C>A ENSP00000416330.2:n.299-209C>A
ENST00000504185.5:n.456-209C>A
ENST00000506699.5:n.364-209C>A
ENST00000507018.5:c.216-209C>A
ENST00000515433.1:n.382C>A
NM_000358.2:c.299-209C>A NP_000349.1:n.299-209C>A
NM_000358.3:c.299-209C>A MANE Select NP_000349.1:n.299-209C>A
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