Canonical Allele Identifier: CA010739

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42552
• ClinVar RCV Id: RCV000035418 ; RCV002054560 ; RCV002490474
• dbSNP Id: rs397515913
• ExAC: 11:47364116 C / T
• gnomAD v2: 11-47364116-C-T
• gnomAD v3: 11-47342565-C-T
• gnomAD v4: 11-47342565-C-T
• MyVariant Identifiers: chr11:g.47364116C>T (hg19) ; chr11:g.47342565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342565C>T , CM000673.2:g.47342565C>T	GRCh38
NC_000011.9:g.47364116C>T , CM000673.1:g.47364116C>T	GRCh37
NC_000011.8:g.47320692C>T	NCBI36
NG_007667.1:g.15138G>A , LRG_386:g.15138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1624+13G>A MANE Select	ENSP00000442795.1:n.1624+13G>A
ENST00000256993.8:c.1624+13G>A	ENSP00000256993.5:n.1624+13G>A
ENST00000399249.6:c.1624+13G>A	ENSP00000382193.2:n.1624+13G>A
ENST00000544791.1:c.1624+13G>A	ENSP00000444259.1:n.1624+13G>A
ENST00000545968.5:c.1624+13G>A	ENSP00000442795.1:n.1624+13G>A
NM_000256.3:c.1624+13G>A , LRG_386t1:c.1624+13G>A MANE Select	NP_000247.2:n.1624+13G>A
XM_011520117.1:c.1606+13G>A	XP_011518419.1:n.1606+13G>A
XM_011520118.1:c.1624+13G>A	XP_011518420.1:n.1624+13G>A