Canonical Allele Identifier: CA1584790988
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751425248
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046326C>G , CM000667.2:g.136046326C>G GRCh38
NC_000005.9:g.135382015C>G , CM000667.1:g.135382015C>G GRCh37
NC_000005.8:g.135409914C>G NCBI36
NG_012646.1:g.22432C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.299-9C>G MANE Select ENSP00000416330.2:n.299-9C>G
ENST00000442011.6:c.299-9C>G ENSP00000416330.2:n.299-9C>G
ENST00000504185.5:n.456-9C>G
ENST00000506699.5:n.364-9C>G
ENST00000507018.5:c.216-9C>G
ENST00000515433.1:n.582C>G
NM_000358.2:c.299-9C>G NP_000349.1:n.299-9C>G
NM_000358.3:c.299-9C>G MANE Select NP_000349.1:n.299-9C>G
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