Canonical Allele Identifier: CA361039249
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055687-G-A
MyVariant Identifiers: chr5:g.135391376G>A (hg19) chr5:g.136055687G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1418G>A MANE Select ENSP00000416330.2:p.Cys473Tyr
ENST00000442011.6:c.1418G>A ENSP00000416330.2:p.Cys473Tyr
ENST00000506699.5:n.1935G>A
ENST00000507018.5:c.1396G>A
ENST00000509485.5:c.333G>A
ENST00000514242.5:n.189G>A
ENST00000514554.5:c.570G>A
NM_000358.2:c.1418G>A NP_000349.1:p.Cys473Tyr
NM_000358.3:c.1418G>A MANE Select NP_000349.1:p.Cys473Tyr
Search 100 bp 5'
Search 100 bp 3'