Canonical Allele Identifier: CA3420034
Gene: TGFBI HGNC NCBI

Linked Data

ClinVar Variation Id: 350872
ClinVar RCV Id: RCV000362797
dbSNP Id: rs200273594
ExAC: 5:135382198 C / T
gnomAD v2: 5-135382198-C-T
gnomAD v3: 5-136046509-C-T
gnomAD v4: 5-136046509-C-T
MyVariant Identifiers: chr5:g.135382198C>T (hg19) chr5:g.136046509C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046509C>T , CM000667.2:g.136046509C>T GRCh38
NC_000005.9:g.135382198C>T , CM000667.1:g.135382198C>T GRCh37
NC_000005.8:g.135410097C>T NCBI36
NG_012646.1:g.22615C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+14C>T MANE Select ENSP00000416330.2:n.459+14C>T
ENST00000442011.6:c.459+14C>T ENSP00000416330.2:n.459+14C>T
ENST00000506699.5:n.538C>T
ENST00000507018.5:c.390C>T
ENST00000515433.1:n.765C>T
NM_000358.2:c.459+14C>T NP_000349.1:n.459+14C>T
NM_000358.3:c.459+14C>T MANE Select NP_000349.1:n.459+14C>T
Search 100 bp 5'
Search 100 bp 3'