Canonical Allele Identifier: CA078440
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 227564
ClinVar RCV Id: RCV000213545 RCV000629168 RCV001182794 RCV002408925
dbSNP Id: rs750861887
ExAC: 11:47361325 G / A
gnomAD v2: 11-47361325-G-A
gnomAD v3: 11-47339774-G-A
gnomAD v4: 11-47339774-G-A
MyVariant Identifiers: chr11:g.47361325G>A (hg19) chr11:g.47339774G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339774G>A , CM000673.2:g.47339774G>A GRCh38
NC_000011.9:g.47361325G>A , CM000673.1:g.47361325G>A GRCh37
NC_000011.8:g.47317901G>A NCBI36
NG_007667.1:g.17929C>T , LRG_386:g.17929C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1944C>T MANE Select ENSP00000442795.1:p.His648=
ENST00000256993.8:c.1944C>T ENSP00000256993.5:p.His648=
ENST00000399249.6:c.1944C>T ENSP00000382193.2:p.His648=
ENST00000544791.1:c.1944C>T ENSP00000444259.1:p.His648=
ENST00000545968.5:c.1944C>T ENSP00000442795.1:p.His648=
NM_000256.3:c.1944C>T , LRG_386t1:c.1944C>T MANE Select NP_000247.2:p.His648=
XM_011520117.1:c.1926C>T XP_011518419.1:p.His642=
XM_011520118.1:c.1944C>T XP_011518420.1:p.His648=
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