Canonical Allele Identifier: CA021732
Gene: TNNI3 HGNC NCBI
ClinVar RCV:
RCV001130133
RCV001130134
RCV001130829
RCV001130830
RCV001170846
RCV001640259
ClinVar Variation:
188667
dbSNP:
202159627
gnomAD v2:
19:55669004 G / A
gnomAD v3:
19:55157636 G / A
gnomAD v4:
chr19-55157636-G-A
Joint Max Group AF 0.00981308 (NFE)
Genomes Max Group AF 0.00902058 (NFE)
Exomes Max Group AF 0.00982901 (NFE)
MyVariant.info:
GRCh38 chr19:g.55157636G>A
GRCh37 chr19:g.55669004G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55157636G>A , CM000681.2:g.55157636G>A GRCh38
NC_000019.9:g.55669004G>A , CM000681.1:g.55669004G>A GRCh37
NC_000019.8:g.60360816G>A NCBI36
NG_007866.2:g.5097C>T , LRG_432:g.5097C>T
NG_032759.1:g.14087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.-47C>T MANE Select ENSP00000341838.5:n.-47C>T
ENST00000665070.1:c.-47C>T ENSP00000499482.1:n.-47C>T
ENST00000344887.9:c.-47C>T ENSP00000341838.5:n.-47C>T
ENST00000586446.1:n.97C>T
ENST00000587176.5:n.138C>T
ENST00000587871.1:c.574C>T
ENST00000590463.1:n.81C>T
NM_000363.4:c.-47C>T , LRG_432t1:c.-47C>T NP_000354.4:n.-47C>T
NM_000363.5:c.-47C>T MANE Select NP_000354.4:n.-47C>T
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