Canonical Allele Identifier: CA361032620
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382080C>A (hg19) chr5:g.136046391C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046391C>A , CM000667.2:g.136046391C>A GRCh38
NC_000005.9:g.135382080C>A , CM000667.1:g.135382080C>A GRCh37
NC_000005.8:g.135409979C>A NCBI36
NG_012646.1:g.22497C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.355C>A MANE Select ENSP00000416330.2:p.Gln119Lys
ENST00000442011.6:c.355C>A ENSP00000416330.2:p.Gln119Lys
ENST00000504185.5:n.512C>A
ENST00000506699.5:n.420C>A
ENST00000507018.5:c.272C>A
ENST00000515433.1:n.647C>A
NM_000358.2:c.355C>A NP_000349.1:p.Gln119Lys
NM_000358.3:c.355C>A MANE Select NP_000349.1:p.Gln119Lys
Search 100 bp 5'
Search 100 bp 3'