Canonical Allele Identifier: CA297334
Gene: TNNC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 181569
ClinVar RCV Id: RCV000159202 RCV000797394
dbSNP Id: rs730880230
ExAC: 3:52485308 T / G
gnomAD v2: 3-52485308-T-G
gnomAD v3: 3-52451292-T-G
gnomAD v4: 3-52451292-T-G
MyVariant Identifiers: chr3:g.52485308T>G (hg19) chr3:g.52451292T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52451292T>G , CM000665.2:g.52451292T>G GRCh38
NC_000003.11:g.52485308T>G , CM000665.1:g.52485308T>G GRCh37
NC_000003.10:g.52460348T>G NCBI36
NG_008963.1:g.7750A>C , LRG_378:g.7750A>C
NG_033112.1:g.785T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000232975.8:c.469A>C MANE Select ENSP00000232975.3:p.Met157Leu
ENST00000232975.7:c.469A>C ENSP00000232975.3:p.Met157Leu
NM_003280.2:c.469A>C , LRG_378t1:c.469A>C NP_003271.1:p.Met157Leu
NM_003280.3:c.469A>C MANE Select NP_003271.1:p.Met157Leu
Search 100 bp 5'
Search 100 bp 3'