Canonical Allele Identifier: CA804298815

Gene: TGFBI

Linked Data

• dbSNP Id: rs1421024149
• gnomAD v3: 5-136057025-G-C
• gnomAD v4: 5-136057025-G-C
• MyVariant Identifiers: chr5:g.135392714G>C (hg19) ; chr5:g.136057025G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057025G>C , CM000667.2:g.136057025G>C	GRCh38
NC_000005.9:g.135392714G>C , CM000667.1:g.135392714G>C	GRCh37
NC_000005.8:g.135420613G>C	NCBI36
NG_012646.1:g.33131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+230G>C MANE Select	ENSP00000416330.2:n.1678+230G>C
ENST00000442011.6:c.1678+230G>C	ENSP00000416330.2:n.1678+230G>C
ENST00000506699.5:n.2195+230G>C
ENST00000507018.5:c.1656+230G>C
ENST00000509485.5:c.675+230G>C
ENST00000514242.5:n.449+230G>C
ENST00000514554.5:c.830+230G>C
NM_000358.2:c.1678+230G>C	NP_000349.1:n.1678+230G>C
NM_000358.3:c.1678+230G>C MANE Select	NP_000349.1:n.1678+230G>C