Canonical Allele Identifier: CA446551723
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs778990116
gnomAD v2: 5-135391371-C-T
gnomAD v4: 5-136055682-C-T
MyVariant Identifiers: chr5:g.135391371C>T (hg19) chr5:g.136055682C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055682C>T , CM000667.2:g.136055682C>T GRCh38
NC_000005.9:g.135391371C>T , CM000667.1:g.135391371C>T GRCh37
NC_000005.8:g.135419270C>T NCBI36
NG_012646.1:g.31788C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1413C>T MANE Select ENSP00000416330.2:p.Ser471=
ENST00000442011.6:c.1413C>T ENSP00000416330.2:p.Ser471=
ENST00000506699.5:n.1930C>T
ENST00000507018.5:c.1391C>T
ENST00000509485.5:c.328C>T
ENST00000514242.5:n.184C>T
ENST00000514554.5:c.565C>T
NM_000358.2:c.1413C>T NP_000349.1:p.Ser471=
NM_000358.3:c.1413C>T MANE Select NP_000349.1:p.Ser471=
Search 100 bp 5'
Search 100 bp 3'