Canonical Allele Identifier: CA3420036
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs369126704
ExAC: 5:135382199 G / A
gnomAD v2: 5-135382199-G-A
gnomAD v3: 5-136046510-G-A
gnomAD v4: 5-136046510-G-A
MyVariant Identifiers: chr5:g.135382199G>A (hg19) chr5:g.136046510G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046510G>A , CM000667.2:g.136046510G>A GRCh38
NC_000005.9:g.135382199G>A , CM000667.1:g.135382199G>A GRCh37
NC_000005.8:g.135410098G>A NCBI36
NG_012646.1:g.22616G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+15G>A MANE Select ENSP00000416330.2:n.459+15G>A
ENST00000442011.6:c.459+15G>A ENSP00000416330.2:n.459+15G>A
ENST00000506699.5:n.539G>A
ENST00000507018.5:c.391G>A
ENST00000515433.1:n.766G>A
NM_000358.2:c.459+15G>A NP_000349.1:n.459+15G>A
NM_000358.3:c.459+15G>A MANE Select NP_000349.1:n.459+15G>A
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