Canonical Allele Identifier: CA804298827

Gene: TGFBI

Linked Data

• dbSNP Id: rs1157945791
• gnomAD v3: 5-136057028-C-T
• gnomAD v4: 5-136057028-C-T
• MyVariant Identifiers: chr5:g.135392717C>T (hg19) ; chr5:g.136057028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057028C>T , CM000667.2:g.136057028C>T	GRCh38
NC_000005.9:g.135392717C>T , CM000667.1:g.135392717C>T	GRCh37
NC_000005.8:g.135420616C>T	NCBI36
NG_012646.1:g.33134C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+233C>T MANE Select	ENSP00000416330.2:n.1678+233C>T
ENST00000442011.6:c.1678+233C>T	ENSP00000416330.2:n.1678+233C>T
ENST00000506699.5:n.2195+233C>T
ENST00000507018.5:c.1656+233C>T
ENST00000509485.5:c.675+233C>T
ENST00000514242.5:n.449+233C>T
ENST00000514554.5:c.830+233C>T
NM_000358.2:c.1678+233C>T	NP_000349.1:n.1678+233C>T
NM_000358.3:c.1678+233C>T MANE Select	NP_000349.1:n.1678+233C>T