Canonical Allele Identifier: CA3420390
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs773091203
ExAC: 5:135391376 G / T
gnomAD v2: 5-135391376-G-T
gnomAD v4: 5-136055687-G-T
MyVariant Identifiers: chr5:g.135391376G>T (hg19) chr5:g.136055687G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055687G>T , CM000667.2:g.136055687G>T GRCh38
NC_000005.9:g.135391376G>T , CM000667.1:g.135391376G>T GRCh37
NC_000005.8:g.135419275G>T NCBI36
NG_012646.1:g.31793G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1418G>T MANE Select ENSP00000416330.2:p.Cys473Phe
ENST00000442011.6:c.1418G>T ENSP00000416330.2:p.Cys473Phe
ENST00000506699.5:n.1935G>T
ENST00000507018.5:c.1396G>T
ENST00000509485.5:c.333G>T
ENST00000514242.5:n.189G>T
ENST00000514554.5:c.570G>T
NM_000358.2:c.1418G>T NP_000349.1:p.Cys473Phe
NM_000358.3:c.1418G>T MANE Select NP_000349.1:p.Cys473Phe
Search 100 bp 5'
Search 100 bp 3'