Canonical Allele Identifier: CA2675399065
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136060808-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136060808C>A , CM000667.2:g.136060808C>A GRCh38
NC_000005.9:g.135396497C>A , CM000667.1:g.135396497C>A GRCh37
NC_000005.8:g.135424396C>A NCBI36
NG_012646.1:g.36914C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1804-26C>A MANE Select ENSP00000416330.2:n.1804-26C>A
ENST00000442011.6:c.1804-26C>A ENSP00000416330.2:n.1804-26C>A
ENST00000503087.1:c.30-26C>A
ENST00000506699.5:n.2321-26C>A
ENST00000507018.5:c.1782-26C>A
ENST00000508076.5:c.-51-26C>A ENSP00000423935.1:n.-51-26C>A
ENST00000513497.1:n.449-26C>A
ENST00000514554.5:c.956-26C>A
NM_000358.2:c.1804-26C>A NP_000349.1:n.1804-26C>A
NM_000358.3:c.1804-26C>A MANE Select NP_000349.1:n.1804-26C>A
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