Canonical Allele Identifier: CA2578413032

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056851G>C , CM000667.2:g.136056851G>C	GRCh38
NC_000005.9:g.135392540G>C , CM000667.1:g.135392540G>C	GRCh37
NC_000005.8:g.135420439G>C	NCBI36
NG_012646.1:g.32957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+56G>C MANE Select	ENSP00000416330.2:n.1678+56G>C
ENST00000442011.6:c.1678+56G>C	ENSP00000416330.2:n.1678+56G>C
ENST00000506699.5:n.2195+56G>C
ENST00000507018.5:c.1656+56G>C
ENST00000509485.5:c.675+56G>C
ENST00000514242.5:n.449+56G>C
ENST00000514554.5:c.830+56G>C
NM_000358.2:c.1678+56G>C	NP_000349.1:n.1678+56G>C
NM_000358.3:c.1678+56G>C MANE Select	NP_000349.1:n.1678+56G>C