Canonical Allele Identifier: CA563254318
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1372800073
gnomAD v2: 5-135391346-T-G
gnomAD v4: 5-136055657-T-G
MyVariant Identifiers: chr5:g.135391346T>G (hg19) chr5:g.136055657T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055657T>G , CM000667.2:g.136055657T>G GRCh38
NC_000005.9:g.135391346T>G , CM000667.1:g.135391346T>G GRCh37
NC_000005.8:g.135419245T>G NCBI36
NG_012646.1:g.31763T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-23T>G MANE Select ENSP00000416330.2:n.1411-23T>G
ENST00000442011.6:c.1411-23T>G ENSP00000416330.2:n.1411-23T>G
ENST00000506699.5:n.1928-23T>G
ENST00000507018.5:c.1389-23T>G
ENST00000509485.5:c.326-23T>G
ENST00000514242.5:n.159T>G
ENST00000514554.5:c.563-23T>G
NM_000358.2:c.1411-23T>G NP_000349.1:n.1411-23T>G
NM_000358.3:c.1411-23T>G MANE Select NP_000349.1:n.1411-23T>G
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