Canonical Allele Identifier: CA122395
Gene: TNNC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12442
ClinVar RCV Id: RCV000013255 RCV000215162 RCV000702748 RCV000998084
dbSNP Id: rs267607123
gnomAD v2: 3-52486238-A-T
gnomAD v3: 3-52452222-A-T
gnomAD v4: 3-52452222-A-T
MyVariant Identifiers: chr3:g.52486238A>T (hg19) chr3:g.52452222A>T (hg38)
PubMed: PMID:11385718 PMID:16302972 PMID:18042489 PMID:18285522 PMID:18820258 PMID:19506933 PMID:22815480 PMID:23008774 PMID:24260207
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52452222A>T , CM000665.2:g.52452222A>T GRCh38
NC_000003.11:g.52486238A>T , CM000665.1:g.52486238A>T GRCh37
NC_000003.10:g.52461278A>T NCBI36
NG_008963.1:g.6820T>A , LRG_378:g.6820T>A
NG_033112.1:g.1715A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000232975.8:c.86T>A MANE Select ENSP00000232975.3:p.Leu29Gln
ENST00000232975.7:c.86T>A ENSP00000232975.3:p.Leu29Gln
ENST00000496590.1:c.-47T>A ENSP00000420596.1:n.-47T>A
NM_003280.2:c.86T>A , LRG_378t1:c.86T>A NP_003271.1:p.Leu29Gln
NM_003280.3:c.86T>A MANE Select NP_003271.1:p.Leu29Gln
Search 100 bp 5'
Search 100 bp 3'