Canonical Allele Identifier: CA128058487
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs745797062
MyVariant Identifiers: chr5:g.135391365G>A (hg19) chr5:g.136055676G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1411-4G>A MANE Select ENSP00000416330.2:n.1411-4G>A
ENST00000442011.6:c.1411-4G>A ENSP00000416330.2:n.1411-4G>A
ENST00000506699.5:n.1928-4G>A
ENST00000507018.5:c.1389-4G>A
ENST00000509485.5:c.326-4G>A
ENST00000514242.5:n.178G>A
ENST00000514554.5:c.563-4G>A
NM_000358.2:c.1411-4G>A NP_000349.1:n.1411-4G>A
NM_000358.3:c.1411-4G>A MANE Select NP_000349.1:n.1411-4G>A
Search 100 bp 5'
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