Canonical Allele Identifier: CA128052068

Gene: TGFBI

Linked Data

• dbSNP Id: rs907448215
• gnomAD v4: 5-136046680-C-T
• MyVariant Identifiers: chr5:g.136046680C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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