Canonical Allele Identifier: CA446551002
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046366-G-C
MyVariant Identifiers: chr5:g.135382055G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046366G>C , CM000667.2:g.136046366G>C GRCh38
NC_000005.9:g.135382055G>C , CM000667.1:g.135382055G>C GRCh37
NC_000005.8:g.135409954G>C NCBI36
NG_012646.1:g.22472G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.330G>C MANE Select ENSP00000416330.2:p.Leu110=
ENST00000442011.6:c.330G>C ENSP00000416330.2:p.Leu110=
ENST00000504185.5:n.487G>C
ENST00000506699.5:n.395G>C
ENST00000507018.5:c.247G>C
ENST00000515433.1:n.622G>C
NM_000358.2:c.330G>C NP_000349.1:p.Leu110=
NM_000358.3:c.330G>C MANE Select NP_000349.1:p.Leu110=
Search 100 bp 5'
Search 100 bp 3'