Canonical Allele Identifier: CA3420471
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs771674035
ExAC: 5:135392436 A / G
gnomAD v2: 5-135392436-A-G
gnomAD v3: 5-136056747-A-G
gnomAD v4: 5-136056747-A-G
COSMIC: COSM5975356 COSM5975357
MyVariant Identifiers: chr5:g.135392436A>G (hg19) chr5:g.136056747A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056747A>G , CM000667.2:g.136056747A>G GRCh38
NC_000005.9:g.135392436A>G , CM000667.1:g.135392436A>G GRCh37
NC_000005.8:g.135420335A>G NCBI36
NG_012646.1:g.32853A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1630A>G MANE Select ENSP00000416330.2:p.Asn544Asp
ENST00000442011.6:c.1630A>G ENSP00000416330.2:p.Asn544Asp
ENST00000506699.5:n.2147A>G
ENST00000507018.5:c.1608A>G
ENST00000509485.5:c.627A>G
ENST00000514242.5:n.401A>G
ENST00000514554.5:c.782A>G
NM_000358.2:c.1630A>G NP_000349.1:p.Asn544Asp
NM_000358.3:c.1630A>G MANE Select NP_000349.1:p.Asn544Asp
Search 100 bp 5'
Search 100 bp 3'