Canonical Allele Identifier: CA563254376
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1289761312
gnomAD v2: 5-135392591-T-A
gnomAD v3: 5-136056902-T-A
gnomAD v4: 5-136056902-T-A
MyVariant Identifiers: chr5:g.135392591T>A (hg19) chr5:g.136056902T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056902T>A , CM000667.2:g.136056902T>A GRCh38
NC_000005.9:g.135392591T>A , CM000667.1:g.135392591T>A GRCh37
NC_000005.8:g.135420490T>A NCBI36
NG_012646.1:g.33008T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+107T>A MANE Select ENSP00000416330.2:n.1678+107T>A
ENST00000442011.6:c.1678+107T>A ENSP00000416330.2:n.1678+107T>A
ENST00000506699.5:n.2195+107T>A
ENST00000507018.5:c.1656+107T>A
ENST00000509485.5:c.675+107T>A
ENST00000514242.5:n.449+107T>A
ENST00000514554.5:c.830+107T>A
NM_000358.2:c.1678+107T>A NP_000349.1:n.1678+107T>A
NM_000358.3:c.1678+107T>A MANE Select NP_000349.1:n.1678+107T>A
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