Canonical Allele Identifier: CA24553002
Gene: TNNI3K HGNC NCBI
FPGT-TNNI3K HGNC NCBI

Linked Data

dbSNP Id: rs146254978
gnomAD v2: 1-74867799-T-C
gnomAD v3: 1-74402115-T-C
gnomAD v4: 1-74402115-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.74402115T>C , CM000663.2:g.74402115T>C GRCh38
NC_000001.10:g.74867799T>C , CM000663.1:g.74867799T>C GRCh37
NC_000001.9:g.74640387T>C NCBI36
NG_032939.2:g.208863T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326637.8:c.1772+31723T>C (TNNI3K) MANE Select ENSP00000322251.3:n.1772+31723T>C
ENST00000557284.7:c.2075+31723T>C (FPGT-TNNI3K) ENSP00000450895.3:n.2075+31723T>C
ENST00000648585.1:c.*1678+31723T>C (FPGT-TNNI3K) ENSP00000497631.1:n.*1678+31723T>C
ENST00000326637.7:c.1772+31723T>C (TNNI3K) ENSP00000322251.3:n.1772+31723T>C
ENST00000370899.7:c.2075+31723T>C (FPGT-TNNI3K) ENSP00000359936.3:n.2075+31723T>C
ENST00000525480.2:c.332-16053T>C (TNNI3K)
ENST00000534020.5:c.463+158T>C (TNNI3K) ENSP00000434975.1:n.463+158T>C
ENST00000557284.6:c.2114+31723T>C (FPGT-TNNI3K) ENSP00000450895.2:n.2114+31723T>C
NM_001112808.2:c.2114+31723T>C (FPGT-TNNI3K) NP_001106279.2:n.2114+31723T>C
NM_001199327.1:c.2114+31723T>C (FPGT-TNNI3K) NP_001186256.2:n.2114+31723T>C
NM_015978.2:c.1772+31723T>C (TNNI3K) NP_057062.1:n.1772+31723T>C
NM_015978.3:c.1772+31723T>C (TNNI3K) MANE Select NP_057062.1:n.1772+31723T>C
NM_001112808.3:c.2075+31723T>C (FPGT-TNNI3K) NP_001106279.3:n.2075+31723T>C
NM_001199327.2:c.2075+31723T>C (FPGT-TNNI3K) NP_001186256.3:n.2075+31723T>C