Canonical Allele Identifier: CA361032423
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751425473
gnomAD v4: 5-136046334-G-A
MyVariant Identifiers: chr5:g.135382023G>A (hg19) chr5:g.136046334G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046334G>A , CM000667.2:g.136046334G>A GRCh38
NC_000005.9:g.135382023G>A , CM000667.1:g.135382023G>A GRCh37
NC_000005.8:g.135409922G>A NCBI36
NG_012646.1:g.22440G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.299-1G>A MANE Select ENSP00000416330.2:n.299-1G>A
ENST00000442011.6:c.299-1G>A ENSP00000416330.2:n.299-1G>A
ENST00000504185.5:n.456-1G>A
ENST00000506699.5:n.364-1G>A
ENST00000507018.5:c.216-1G>A
ENST00000515433.1:n.590G>A
NM_000358.2:c.299-1G>A NP_000349.1:n.299-1G>A
NM_000358.3:c.299-1G>A MANE Select NP_000349.1:n.299-1G>A
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