Canonical Allele Identifier: CA3420457

Gene: TGFBI

Linked Data

• dbSNP Id: rs923574898
• ExAC: 5:135392348 C / A
• gnomAD v2: 5-135392348-C-A
• gnomAD v3: 5-136056659-C-A
• gnomAD v4: 5-136056659-C-A
• MyVariant Identifiers: chr5:g.135392348C>A (hg19) ; chr5:g.135392348_135392349delinsAT (hg19) ; chr5:g.136056659C>A (hg38) ; chr5:g.136056659_136056660delinsAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056659C>A , CM000667.2:g.136056659C>A	GRCh38
NC_000005.9:g.135392348C>A , CM000667.1:g.135392348C>A	GRCh37
NC_000005.8:g.135420247C>A	NCBI36
NG_012646.1:g.32765C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1548-6C>A MANE Select	ENSP00000416330.2:n.1548-6C>A
ENST00000442011.6:c.1548-6C>A	ENSP00000416330.2:n.1548-6C>A
ENST00000506699.5:n.2065-6C>A
ENST00000507018.5:c.1526-6C>A
ENST00000509485.5:c.545-6C>A
ENST00000514242.5:n.319-6C>A
ENST00000514554.5:c.700-6C>A
NM_000358.2:c.1548-6C>A	NP_000349.1:n.1548-6C>A
NM_000358.3:c.1548-6C>A MANE Select	NP_000349.1:n.1548-6C>A