Canonical Allele Identifier: CA1081908636
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751434865
gnomAD v3: 5-136046678-G-GC
gnomAD v4: 5-136046678-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046684dup , CM000667.2:g.136046684dup GRCh38
NC_000005.9:g.135382373dup , CM000667.1:g.135382373dup GRCh37
NC_000005.8:g.135410272dup NCBI36
NG_012646.1:g.22790dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.460-167dup MANE Select ENSP00000416330.2:n.460-167dup
ENST00000442011.6:c.460-167dup ENSP00000416330.2:n.460-167dup
ENST00000506699.5:n.713dup
ENST00000507018.5:c.437+128dup
ENST00000515433.1:n.940dup
NM_000358.2:c.460-167dup NP_000349.1:n.460-167dup
NM_000358.3:c.460-167dup MANE Select NP_000349.1:n.460-167dup
Search 100 bp 5'
Search 100 bp 3'