Canonical Allele Identifier: CA446551862
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136056743-C-G
MyVariant Identifiers: chr5:g.135392432C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056743C>G , CM000667.2:g.136056743C>G GRCh38
NC_000005.9:g.135392432C>G , CM000667.1:g.135392432C>G GRCh37
NC_000005.8:g.135420331C>G NCBI36
NG_012646.1:g.32849C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1626C>G MANE Select ENSP00000416330.2:p.Pro542=
ENST00000442011.6:c.1626C>G ENSP00000416330.2:p.Pro542=
ENST00000506699.5:n.2143C>G
ENST00000507018.5:c.1604C>G
ENST00000509485.5:c.623C>G
ENST00000514242.5:n.397C>G
ENST00000514554.5:c.778C>G
NM_000358.2:c.1626C>G NP_000349.1:p.Pro542=
NM_000358.3:c.1626C>G MANE Select NP_000349.1:p.Pro542=
Search 100 bp 5'
Search 100 bp 3'