Canonical Allele Identifier: CA011029
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 179895
ClinVar RCV Id: RCV000156696 RCV001190197 RCV003390853 RCV001502695 RCV002399560
dbSNP Id: rs727505203
ExAC: 11:47363574 G / A
gnomAD v2: 11-47363574-G-A
gnomAD v3: 11-47342023-G-A
gnomAD v4: 11-47342023-G-A
MyVariant Identifiers: chr11:g.47363574G>A (hg19) chr11:g.47342023G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342023G>A , CM000673.2:g.47342023G>A GRCh38
NC_000011.9:g.47363574G>A , CM000673.1:g.47363574G>A GRCh37
NC_000011.8:g.47320150G>A NCBI36
NG_007667.1:g.15680C>T , LRG_386:g.15680C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1758C>T MANE Select ENSP00000442795.1:p.Pro586=
ENST00000256993.8:c.1758C>T ENSP00000256993.5:p.Pro586=
ENST00000399249.6:c.1758C>T ENSP00000382193.2:p.Pro586=
ENST00000544791.1:c.1758C>T ENSP00000444259.1:p.Pro586=
ENST00000545968.5:c.1758C>T ENSP00000442795.1:p.Pro586=
NM_000256.3:c.1758C>T , LRG_386t1:c.1758C>T MANE Select NP_000247.2:p.Pro586=
XM_011520117.1:c.1740C>T XP_011518419.1:p.Pro580=
XM_011520118.1:c.1758C>T XP_011518420.1:p.Pro586=
Search 100 bp 5'
Search 100 bp 3'