Canonical Allele Identifier: CA221681932
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs557284558
gnomAD v2: 11-47353911-C-T
gnomAD v3: 11-47332360-C-T
gnomAD v4: 11-47332360-C-T
MyVariant Identifiers: chr11:g.47353911C>T (hg19) chr11:g.47332360C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332360C>T , CM000673.2:g.47332360C>T GRCh38
NC_000011.9:g.47353911C>T , CM000673.1:g.47353911C>T GRCh37
NC_000011.8:g.47310487C>T NCBI36
NG_007667.1:g.25343G>A , LRG_386:g.25343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3628-102G>A MANE Select ENSP00000442795.1:n.3628-102G>A
ENST00000256993.8:c.3628-102G>A ENSP00000256993.5:n.3628-102G>A
ENST00000399249.6:c.3628-102G>A ENSP00000382193.2:n.3628-102G>A
ENST00000545968.5:c.3628-102G>A ENSP00000442795.1:n.3628-102G>A
NM_000256.3:c.3628-102G>A , LRG_386t1:c.3628-102G>A MANE Select NP_000247.2:n.3628-102G>A
XM_011520117.1:c.3610-102G>A XP_011518419.1:n.3610-102G>A
XM_011520118.1:c.3547-102G>A XP_011518420.1:n.3547-102G>A
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