Canonical Allele Identifier: CA2578413007
Gene: TGFBI HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055672C>T , CM000667.2:g.136055672C>T GRCh38
NC_000005.9:g.135391361C>T , CM000667.1:g.135391361C>T GRCh37
NC_000005.8:g.135419260C>T NCBI36
NG_012646.1:g.31778C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1411-8C>T MANE Select ENSP00000416330.2:n.1411-8C>T
ENST00000442011.6:c.1411-8C>T ENSP00000416330.2:n.1411-8C>T
ENST00000506699.5:n.1928-8C>T
ENST00000507018.5:c.1389-8C>T
ENST00000509485.5:c.326-8C>T
ENST00000514242.5:n.174C>T
ENST00000514554.5:c.563-8C>T
NM_000358.2:c.1411-8C>T NP_000349.1:n.1411-8C>T
NM_000358.3:c.1411-8C>T MANE Select NP_000349.1:n.1411-8C>T
Search 100 bp 5'
Search 100 bp 3'