Canonical Allele Identifier: CA361039245
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135391375T>C (hg19) chr5:g.136055686T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055686T>C , CM000667.2:g.136055686T>C GRCh38
NC_000005.9:g.135391375T>C , CM000667.1:g.135391375T>C GRCh37
NC_000005.8:g.135419274T>C NCBI36
NG_012646.1:g.31792T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1417T>C MANE Select ENSP00000416330.2:p.Cys473Arg
ENST00000442011.6:c.1417T>C ENSP00000416330.2:p.Cys473Arg
ENST00000506699.5:n.1934T>C
ENST00000507018.5:c.1395T>C
ENST00000509485.5:c.332T>C
ENST00000514242.5:n.188T>C
ENST00000514554.5:c.569T>C
NM_000358.2:c.1417T>C NP_000349.1:p.Cys473Arg
NM_000358.3:c.1417T>C MANE Select NP_000349.1:p.Cys473Arg
Search 100 bp 5'
Search 100 bp 3'