Canonical Allele Identifier: CA221694397
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs958649268
gnomAD v3: 11-47341330-C-G
gnomAD v4: 11-47341330-C-G
MyVariant Identifiers: chr11:g.47362881C>G (hg19) chr11:g.47341330C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341330C>G , CM000673.2:g.47341330C>G GRCh38
NC_000011.9:g.47362881C>G , CM000673.1:g.47362881C>G GRCh37
NC_000011.8:g.47319457C>G NCBI36
NG_007667.1:g.16373G>C , LRG_386:g.16373G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1791-86G>C MANE Select ENSP00000442795.1:n.1791-86G>C
ENST00000256993.8:c.1791-86G>C ENSP00000256993.5:n.1791-86G>C
ENST00000399249.6:c.1791-86G>C ENSP00000382193.2:n.1791-86G>C
ENST00000544791.1:c.1791-86G>C ENSP00000444259.1:n.1791-86G>C
ENST00000545968.5:c.1791-86G>C ENSP00000442795.1:n.1791-86G>C
NM_000256.3:c.1791-86G>C , LRG_386t1:c.1791-86G>C MANE Select NP_000247.2:n.1791-86G>C
XM_011520117.1:c.1773-86G>C XP_011518419.1:n.1773-86G>C
XM_011520118.1:c.1791-86G>C XP_011518420.1:n.1791-86G>C
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