Canonical Allele Identifier: CA738767690
Gene: TNNI3K HGNC NCBI
FPGT-TNNI3K HGNC NCBI

Linked Data

dbSNP Id: rs1246963432
gnomAD v3: 1-74402036-A-G
gnomAD v4: 1-74402036-A-G
MyVariant Identifiers: chr1:g.74867720A>G (hg19) chr1:g.74402036A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.74402036A>G , CM000663.2:g.74402036A>G GRCh38
NC_000001.10:g.74867720A>G , CM000663.1:g.74867720A>G GRCh37
NC_000001.9:g.74640308A>G NCBI36
NG_032939.2:g.208784A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326637.8:c.1772+31644A>G (TNNI3K) MANE Select ENSP00000322251.3:n.1772+31644A>G
ENST00000557284.7:c.2075+31644A>G (FPGT-TNNI3K) ENSP00000450895.3:n.2075+31644A>G
ENST00000648585.1:c.*1678+31644A>G (FPGT-TNNI3K) ENSP00000497631.1:n.*1678+31644A>G
ENST00000326637.7:c.1772+31644A>G (TNNI3K) ENSP00000322251.3:n.1772+31644A>G
ENST00000370899.7:c.2075+31644A>G (FPGT-TNNI3K) ENSP00000359936.3:n.2075+31644A>G
ENST00000525480.2:c.332-16132A>G (TNNI3K)
ENST00000534020.5:c.463+79A>G (TNNI3K) ENSP00000434975.1:n.463+79A>G
ENST00000557284.6:c.2114+31644A>G (FPGT-TNNI3K) ENSP00000450895.2:n.2114+31644A>G
NM_001112808.2:c.2114+31644A>G (FPGT-TNNI3K) NP_001106279.2:n.2114+31644A>G
NM_001199327.1:c.2114+31644A>G (FPGT-TNNI3K) NP_001186256.2:n.2114+31644A>G
NM_015978.2:c.1772+31644A>G (TNNI3K) NP_057062.1:n.1772+31644A>G
NM_015978.3:c.1772+31644A>G (TNNI3K) MANE Select NP_057062.1:n.1772+31644A>G
NM_001112808.3:c.2075+31644A>G (FPGT-TNNI3K) NP_001106279.3:n.2075+31644A>G
NM_001199327.2:c.2075+31644A>G (FPGT-TNNI3K) NP_001186256.3:n.2075+31644A>G
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