Canonical Allele Identifier: CA221682140
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs573550090
gnomAD v3: 11-47332763-C-G
gnomAD v4: 11-47332763-C-G
MyVariant Identifiers: chr11:g.47354314C>G (hg19) chr11:g.47332763C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332763C>G , CM000673.2:g.47332763C>G GRCh38
NC_000011.9:g.47354314C>G , CM000673.1:g.47354314C>G GRCh37
NC_000011.8:g.47310890C>G NCBI36
NG_007667.1:g.24940G>C , LRG_386:g.24940G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3490+51G>C MANE Select ENSP00000442795.1:n.3490+51G>C
ENST00000256993.8:c.3490+51G>C ENSP00000256993.5:n.3490+51G>C
ENST00000399249.6:c.3490+51G>C ENSP00000382193.2:n.3490+51G>C
ENST00000545968.5:c.3490+51G>C ENSP00000442795.1:n.3490+51G>C
NM_000256.3:c.3490+51G>C , LRG_386t1:c.3490+51G>C MANE Select NP_000247.2:n.3490+51G>C
XM_011520117.1:c.3472+51G>C XP_011518419.1:n.3472+51G>C
XM_011520118.1:c.3409+51G>C XP_011518420.1:n.3409+51G>C
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