Canonical Allele Identifier: CA130077

Gene: TFG

Linked Data

• ClinVar Variation Id: 37089
• ClinVar RCV Id: RCV000030736 ; RCV000218755 ; RCV000642397 ; RCV001095428 ; RCV002251934
• dbSNP Id: rs207482230
• gnomAD v2: 3-100467026-C-T
• MyVariant Identifiers: chr3:g.100467026C>T (hg19) ; chr3:g.100748182C>T (hg38)
• PubMed: PMID:22883144 ; PMID:23553329 ; PMID:26257172

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.100748182C>T , CM000665.2:g.100748182C>T	GRCh38
NC_000003.11:g.100467026C>T , CM000665.1:g.100467026C>T	GRCh37
NC_000003.10:g.101949716C>T	NCBI36
NG_027821.1:g.43893C>T
NG_027821.2:g.43893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240851.9:c.854C>T MANE Select	ENSP00000240851.4:p.Pro285Leu
ENST00000418917.7:c.*24C>T	ENSP00000397182.3:n.*24C>T
ENST00000463568.6:c.842C>T	ENSP00000419504.2:p.Pro281Leu
ENST00000487505.6:c.854C>T	ENSP00000420797.2:p.Pro285Leu
ENST00000490574.6:c.854C>T	ENSP00000419960.1:p.Pro285Leu
ENST00000615993.2:c.*40C>T	ENSP00000479269.2:n.*40C>T
ENST00000620299.5:c.*40C>T	ENSP00000479981.1:n.*40C>T
ENST00000674615.1:c.854C>T	ENSP00000502734.1:p.Pro285Leu
ENST00000674645.1:c.842C>T	ENSP00000501892.1:p.Pro281Leu
ENST00000674699.1:c.*111C>T	ENSP00000502175.1:n.*111C>T
ENST00000674758.1:c.842C>T	ENSP00000502502.1:p.Pro281Leu
ENST00000674798.1:n.3701C>T
ENST00000675011.1:c.*149C>T	ENSP00000501745.1:n.*149C>T
ENST00000675047.1:c.842C>T	ENSP00000502497.1:p.Pro281Leu
ENST00000675243.1:c.854C>T	ENSP00000502592.1:p.Pro285Leu
ENST00000675246.1:c.850C>T	ENSP00000501620.1:p.Leu284Phe
ENST00000675420.1:c.842C>T	ENSP00000502516.1:p.Pro281Leu
ENST00000675499.1:c.854C>T	ENSP00000502450.1:p.Pro285Leu
ENST00000675543.1:c.*40C>T	ENSP00000502229.1:n.*40C>T
ENST00000675553.1:c.854C>T	ENSP00000501815.1:p.Pro285Leu
ENST00000675586.1:c.*40C>T	ENSP00000502329.1:n.*40C>T
ENST00000675591.1:c.*411C>T	ENSP00000501641.1:n.*411C>T
ENST00000675692.1:c.890C>T	ENSP00000502034.1:p.Pro297Leu
ENST00000675890.1:c.*24C>T	ENSP00000502537.1:n.*24C>T
ENST00000675958.1:c.*24C>T	ENSP00000502025.1:n.*24C>T
ENST00000676010.1:n.5082C>T
ENST00000676054.1:c.*111C>T	ENSP00000502051.1:n.*111C>T
ENST00000676111.1:c.*40C>T	ENSP00000502139.1:n.*40C>T
ENST00000676276.1:c.*88C>T	ENSP00000502372.1:n.*88C>T
ENST00000676308.1:c.*40C>T	ENSP00000502697.1:n.*40C>T
ENST00000676395.1:c.854C>T	ENSP00000502071.1:p.Pro285Leu
ENST00000676431.1:c.842C>T	ENSP00000502698.1:p.Pro281Leu
ENST00000240851.8:c.854C>T	ENSP00000240851.4:p.Pro285Leu
ENST00000418917.6:c.842C>T	ENSP00000397182.2:p.Pro281Leu
ENST00000476228.5:c.842C>T	ENSP00000417952.1:p.Pro281Leu
ENST00000481203.1:n.2490C>T
ENST00000490574.5:c.854C>T	ENSP00000419960.1:p.Pro285Leu
ENST00000612059.4:c.841C>T	ENSP00000477562.1:p.Leu281Phe
ENST00000615993.1:c.895C>T	ENSP00000479269.1:n.895C>T
NM_001007565.2:c.854C>T	NP_001007566.1:p.Pro285Leu
NM_001195478.1:c.854C>T	NP_001182407.1:p.Pro285Leu
NM_001195479.1:c.842C>T	NP_001182408.1:p.Pro281Leu
NM_006070.5:c.854C>T	NP_006061.2:p.Pro285Leu
XM_005247066.1:c.842C>T	XP_005247123.1:p.Pro281Leu
XM_006713472.1:c.854C>T	XP_006713535.1:p.Pro285Leu
XM_006713473.1:c.854C>T	XP_006713536.1:p.Pro285Leu
XM_011512334.1:c.854C>T	XP_011510636.1:p.Pro285Leu
XM_005247066.2:c.842C>T	XP_005247123.1:p.Pro281Leu
XM_017005527.1:c.842C>T	XP_016861016.1:p.Pro281Leu
NM_006070.6:c.854C>T MANE Select	NP_006061.2:p.Pro285Leu
NM_001195478.2:c.854C>T	NP_001182407.1:p.Pro285Leu
NM_001195479.2:c.842C>T	NP_001182408.1:p.Pro281Leu