Canonical Allele Identifier: CA3419986
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs770449173
ExAC: 5:135382001 C / T
gnomAD v2: 5-135382001-C-T
gnomAD v4: 5-136046312-C-T
MyVariant Identifiers: chr5:g.135382001C>T (hg19) chr5:g.135382001_135382004delinsTCTT (hg19) chr5:g.136046312C>T (hg38) chr5:g.136046312_136046315delinsTCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046312C>T , CM000667.2:g.136046312C>T GRCh38
NC_000005.9:g.135382001C>T , CM000667.1:g.135382001C>T GRCh37
NC_000005.8:g.135409900C>T NCBI36
NG_012646.1:g.22418C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.299-23C>T MANE Select ENSP00000416330.2:n.299-23C>T
ENST00000442011.6:c.299-23C>T ENSP00000416330.2:n.299-23C>T
ENST00000504185.5:n.456-23C>T
ENST00000506699.5:n.364-23C>T
ENST00000507018.5:c.216-23C>T
ENST00000515433.1:n.568C>T
NM_000358.2:c.299-23C>T NP_000349.1:n.299-23C>T
NM_000358.3:c.299-23C>T MANE Select NP_000349.1:n.299-23C>T
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