Canonical Allele Identifier: CA128058454

Gene: TGFBI

Linked Data

• dbSNP Id: rs966516238
• gnomAD v2: 5-135391286-C-A
• gnomAD v3: 5-136055597-C-A
• gnomAD v4: 5-136055597-C-A
• MyVariant Identifiers: chr5:g.135391286C>A (hg19) ; chr5:g.136055597C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055597C>A , CM000667.2:g.136055597C>A	GRCh38
NC_000005.9:g.135391286C>A , CM000667.1:g.135391286C>A	GRCh37
NC_000005.8:g.135419185C>A	NCBI36
NG_012646.1:g.31703C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1411-83C>A MANE Select	ENSP00000416330.2:n.1411-83C>A
ENST00000442011.6:c.1411-83C>A	ENSP00000416330.2:n.1411-83C>A
ENST00000506699.5:n.1928-83C>A
ENST00000507018.5:c.1389-83C>A
ENST00000509485.5:c.326-83C>A
ENST00000514242.5:n.99C>A
ENST00000514554.5:c.563-83C>A
NM_000358.2:c.1411-83C>A	NP_000349.1:n.1411-83C>A
NM_000358.3:c.1411-83C>A MANE Select	NP_000349.1:n.1411-83C>A