Canonical Allele Identifier: CA079066
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs371453856
ExAC: 11:47355430 T / C
gnomAD v2: 11-47355430-T-C
gnomAD v3: 11-47333879-T-C
gnomAD v4: 11-47333879-T-C
MyVariant Identifiers: chr11:g.47355430T>C (hg19) chr11:g.47333879T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333879T>C , CM000673.2:g.47333879T>C GRCh38
NC_000011.9:g.47355430T>C , CM000673.1:g.47355430T>C GRCh37
NC_000011.8:g.47312006T>C NCBI36
NG_007667.1:g.23824A>G , LRG_386:g.23824A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2994+43A>G MANE Select ENSP00000442795.1:n.2994+43A>G
ENST00000256993.8:c.2994+43A>G ENSP00000256993.5:n.2994+43A>G
ENST00000399249.6:c.2994+43A>G ENSP00000382193.2:n.2994+43A>G
ENST00000545968.5:c.2994+43A>G ENSP00000442795.1:n.2994+43A>G
NM_000256.3:c.2994+43A>G , LRG_386t1:c.2994+43A>G MANE Select NP_000247.2:n.2994+43A>G
XM_011520117.1:c.2976+43A>G XP_011518419.1:n.2976+43A>G
XM_011520118.1:c.2913+43A>G XP_011518420.1:n.2913+43A>G
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