Canonical Allele Identifier: CA2675398340

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136056859-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056859A>C , CM000667.2:g.136056859A>C	GRCh38
NC_000005.9:g.135392548A>C , CM000667.1:g.135392548A>C	GRCh37
NC_000005.8:g.135420447A>C	NCBI36
NG_012646.1:g.32965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+64A>C MANE Select	ENSP00000416330.2:n.1678+64A>C
ENST00000442011.6:c.1678+64A>C	ENSP00000416330.2:n.1678+64A>C
ENST00000506699.5:n.2195+64A>C
ENST00000507018.5:c.1656+64A>C
ENST00000509485.5:c.675+64A>C
ENST00000514242.5:n.449+64A>C
ENST00000514554.5:c.830+64A>C
NM_000358.2:c.1678+64A>C	NP_000349.1:n.1678+64A>C
NM_000358.3:c.1678+64A>C MANE Select	NP_000349.1:n.1678+64A>C