Canonical Allele Identifier: CA3709727
Gene: TCF19 HGNC NCBI

Linked Data

dbSNP Id: rs780089064
gnomAD v2: 6-31129722-C-T
gnomAD v4: 6-31161945-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31161945C>T , CM000668.2:g.31161945C>T GRCh38
NC_000006.11:g.31129722C>T , CM000668.1:g.31129722C>T GRCh37
NC_000006.10:g.31237701C>T NCBI36
NG_054878.1:g.1294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000542218.2:c.737C>T ENSP00000439397.2:p.Pro246Leu
ENST00000706778.1:c.737C>T ENSP00000516543.1:p.Pro246Leu
ENST00000706779.1:c.737C>T ENSP00000516544.1:p.Pro246Leu
ENST00000706780.1:c.737C>T ENSP00000516545.1:p.Pro246Leu
ENST00000706781.1:c.737C>T ENSP00000516546.1:p.Pro246Leu
ENST00000706782.1:c.737C>T ENSP00000516547.1:p.Pro246Leu
ENST00000706783.1:c.568C>T ENSP00000516548.1:p.Arg190Trp
ENST00000706785.1:c.*30C>T ENSP00000516549.1:n.*30C>T
ENST00000706786.1:c.568C>T ENSP00000516550.1:p.Arg190Trp
ENST00000706787.1:c.737C>T ENSP00000516551.1:p.Pro246Leu
ENST00000706788.1:n.688C>T
ENST00000376257.8:c.737C>T MANE Select ENSP00000365433.3:p.Pro246Leu
ENST00000376255.4:c.737C>T ENSP00000365431.4:p.Pro246Leu
ENST00000376257.7:c.737C>T ENSP00000365433.3:p.Pro246Leu
ENST00000496421.1:n.289C>T
ENST00000542218.1:c.497C>T ENSP00000439397.1:p.Pro166Leu
NM_001077511.1:c.737C>T NP_001070979.1:p.Pro246Leu
NM_007109.2:c.737C>T NP_009040.2:p.Pro246Leu
XM_005249334.2:c.737C>T XP_005249391.1:p.Pro246Leu
XM_011514829.1:c.737C>T XP_011513131.1:p.Pro246Leu
NM_001318908.1:c.737C>T NP_001305837.1:p.Pro246Leu
NM_007109.3:c.737C>T MANE Select NP_009040.2:p.Pro246Leu
NM_001077511.2:c.737C>T NP_001070979.1:p.Pro246Leu
NM_001318908.2:c.737C>T NP_001305837.1:p.Pro246Leu