Canonical Allele Identifier: CA055427

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 756994
• ClinVar RCV Id: RCV001428310 ; RCV002336949 ; RCV002502862
• dbSNP Id: rs377520770
• ExAC: 11:47371620 G / C
• gnomAD v2: 11-47371620-G-C
• gnomAD v3: 11-47350069-G-C
• gnomAD v4: 11-47350069-G-C
• MyVariant Identifiers: chr11:g.47371620G>C (hg19) ; chr11:g.47350069G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47350069G>C , CM000673.2:g.47350069G>C	GRCh38
NC_000011.9:g.47371620G>C , CM000673.1:g.47371620G>C	GRCh37
NC_000011.8:g.47328196G>C	NCBI36
NG_007667.1:g.7634C>G , LRG_386:g.7634C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.450C>G MANE Select	ENSP00000442795.1:p.Pro150=
ENST00000256993.8:c.450C>G	ENSP00000256993.5:p.Pro150=
ENST00000399249.6:c.450C>G	ENSP00000382193.2:p.Pro150=
ENST00000544791.1:c.450C>G	ENSP00000444259.1:p.Pro150=
ENST00000545968.5:c.450C>G	ENSP00000442795.1:p.Pro150=
NM_000256.3:c.450C>G , LRG_386t1:c.450C>G MANE Select	NP_000247.2:p.Pro150=
XM_011520117.1:c.450C>G	XP_011518419.1:p.Pro150=
XM_011520118.1:c.450C>G	XP_011518420.1:p.Pro150=