Canonical Allele Identifier: CA2675397211
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055676-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055676G>T , CM000667.2:g.136055676G>T GRCh38
NC_000005.9:g.135391365G>T , CM000667.1:g.135391365G>T GRCh37
NC_000005.8:g.135419264G>T NCBI36
NG_012646.1:g.31782G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1411-4G>T MANE Select ENSP00000416330.2:n.1411-4G>T
ENST00000442011.6:c.1411-4G>T ENSP00000416330.2:n.1411-4G>T
ENST00000506699.5:n.1928-4G>T
ENST00000507018.5:c.1389-4G>T
ENST00000509485.5:c.326-4G>T
ENST00000514242.5:n.178G>T
ENST00000514554.5:c.563-4G>T
NM_000358.2:c.1411-4G>T NP_000349.1:n.1411-4G>T
NM_000358.3:c.1411-4G>T MANE Select NP_000349.1:n.1411-4G>T
Search 100 bp 5'
Search 100 bp 3'