Canonical Allele Identifier: CA361032627
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751426664
gnomAD v4: 5-136046392-A-G
MyVariant Identifiers: chr5:g.135382081A>G (hg19) chr5:g.136046392A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046392A>G , CM000667.2:g.136046392A>G GRCh38
NC_000005.9:g.135382081A>G , CM000667.1:g.135382081A>G GRCh37
NC_000005.8:g.135409980A>G NCBI36
NG_012646.1:g.22498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.356A>G MANE Select ENSP00000416330.2:p.Gln119Arg
ENST00000442011.6:c.356A>G ENSP00000416330.2:p.Gln119Arg
ENST00000504185.5:n.513A>G
ENST00000506699.5:n.421A>G
ENST00000507018.5:c.273A>G
ENST00000515433.1:n.648A>G
NM_000358.2:c.356A>G NP_000349.1:p.Gln119Arg
NM_000358.3:c.356A>G MANE Select NP_000349.1:p.Gln119Arg
Search 100 bp 5'
Search 100 bp 3'