Canonical Allele Identifier: CA057465
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069815
ClinVar RCV Id: RCV004009847
dbSNP Id: rs536744834
ExAC: 11:47372991 C / T
gnomAD v2: 11-47372991-C-T
gnomAD v3: 11-47351440-C-T
gnomAD v4: 11-47351440-C-T
MyVariant Identifiers: chr11:g.47372991C>T (hg19) chr11:g.47351440C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351440C>T , CM000673.2:g.47351440C>T GRCh38
NC_000011.9:g.47372991C>T , CM000673.1:g.47372991C>T GRCh37
NC_000011.8:g.47329567C>T NCBI36
NG_007667.1:g.6263G>A , LRG_386:g.6263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.91G>A MANE Select ENSP00000442795.1:p.Ala31Thr
ENST00000256993.8:c.91G>A ENSP00000256993.5:p.Ala31Thr
ENST00000399249.6:c.91G>A ENSP00000382193.2:p.Ala31Thr
ENST00000544791.1:c.91G>A ENSP00000444259.1:p.Ala31Thr
ENST00000545968.5:c.91G>A ENSP00000442795.1:p.Ala31Thr
NM_000256.3:c.91G>A , LRG_386t1:c.91G>A MANE Select NP_000247.2:p.Ala31Thr
XM_011520117.1:c.91G>A XP_011518419.1:p.Ala31Thr
XM_011520118.1:c.91G>A XP_011518420.1:p.Ala31Thr
Search 100 bp 5'
Search 100 bp 3'