Canonical Allele Identifier: CA804306033
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs907448215
gnomAD v4: 5-136046680-C-A
MyVariant Identifiers: chr5:g.135382369C>A (hg19) chr5:g.136046680C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046680C>A , CM000667.2:g.136046680C>A GRCh38
NC_000005.9:g.135382369C>A , CM000667.1:g.135382369C>A GRCh37
NC_000005.8:g.135410268C>A NCBI36
NG_012646.1:g.22786C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.460-171C>A MANE Select ENSP00000416330.2:n.460-171C>A
ENST00000442011.6:c.460-171C>A ENSP00000416330.2:n.460-171C>A
ENST00000506699.5:n.709C>A
ENST00000507018.5:c.437+124C>A
ENST00000515433.1:n.936C>A
NM_000358.2:c.460-171C>A NP_000349.1:n.460-171C>A
NM_000358.3:c.460-171C>A MANE Select NP_000349.1:n.460-171C>A
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