Canonical Allele Identifier: CA361039252
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135391376G>C (hg19) chr5:g.136055687G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055687G>C , CM000667.2:g.136055687G>C GRCh38
NC_000005.9:g.135391376G>C , CM000667.1:g.135391376G>C GRCh37
NC_000005.8:g.135419275G>C NCBI36
NG_012646.1:g.31793G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1418G>C MANE Select ENSP00000416330.2:p.Cys473Ser
ENST00000442011.6:c.1418G>C ENSP00000416330.2:p.Cys473Ser
ENST00000506699.5:n.1935G>C
ENST00000507018.5:c.1396G>C
ENST00000509485.5:c.333G>C
ENST00000514242.5:n.189G>C
ENST00000514554.5:c.570G>C
NM_000358.2:c.1418G>C NP_000349.1:p.Cys473Ser
NM_000358.3:c.1418G>C MANE Select NP_000349.1:p.Cys473Ser
Search 100 bp 5'
Search 100 bp 3'