Canonical Allele Identifier: CA2675399057
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136060798-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136060798G>C , CM000667.2:g.136060798G>C GRCh38
NC_000005.9:g.135396487G>C , CM000667.1:g.135396487G>C GRCh37
NC_000005.8:g.135424386G>C NCBI36
NG_012646.1:g.36904G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1804-36G>C MANE Select ENSP00000416330.2:n.1804-36G>C
ENST00000442011.6:c.1804-36G>C ENSP00000416330.2:n.1804-36G>C
ENST00000503087.1:c.30-36G>C
ENST00000506699.5:n.2321-36G>C
ENST00000507018.5:c.1782-36G>C
ENST00000508076.5:c.-51-36G>C ENSP00000423935.1:n.-51-36G>C
ENST00000513497.1:n.449-36G>C
ENST00000514554.5:c.956-36G>C
NM_000358.2:c.1804-36G>C NP_000349.1:n.1804-36G>C
NM_000358.3:c.1804-36G>C MANE Select NP_000349.1:n.1804-36G>C
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