Canonical Allele Identifier: CA1969336492
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1429952795
gnomAD v3: 11-47342969-C-G
gnomAD v4: 11-47342969-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342969C>G , CM000673.2:g.47342969C>G GRCh38
NC_000011.9:g.47364520C>G , CM000673.1:g.47364520C>G GRCh37
NC_000011.8:g.47321096C>G NCBI36
NG_007667.1:g.14734G>C , LRG_386:g.14734G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1352-34G>C MANE Select ENSP00000442795.1:n.1352-34G>C
ENST00000256993.8:c.1352-34G>C ENSP00000256993.5:n.1352-34G>C
ENST00000399249.6:c.1352-34G>C ENSP00000382193.2:n.1352-34G>C
ENST00000544791.1:c.1352-34G>C ENSP00000444259.1:n.1352-34G>C
ENST00000545968.5:c.1352-34G>C ENSP00000442795.1:n.1352-34G>C
NM_000256.3:c.1352-34G>C , LRG_386t1:c.1352-34G>C MANE Select NP_000247.2:n.1352-34G>C
XM_011520117.1:c.1334-34G>C XP_011518419.1:n.1334-34G>C
XM_011520118.1:c.1352-34G>C XP_011518420.1:n.1352-34G>C
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