Canonical Allele Identifier: CA380329071

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 915782
• ClinVar RCV Id: RCV001171148 ; RCV003163376
• dbSNP Id: rs2095891372
• gnomAD v4: 11-47343575-C-A
• MyVariant Identifiers: chr11:g.47365126C>A (hg19) ; chr11:g.47343575C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343575C>A , CM000673.2:g.47343575C>A	GRCh38
NC_000011.9:g.47365126C>A , CM000673.1:g.47365126C>A	GRCh37
NC_000011.8:g.47321702C>A	NCBI36
NG_007667.1:g.14128G>T , LRG_386:g.14128G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1140G>T MANE Select	ENSP00000442795.1:p.Lys380Asn
ENST00000256993.8:c.1140G>T	ENSP00000256993.5:p.Lys380Asn
ENST00000399249.6:c.1140G>T	ENSP00000382193.2:p.Lys380Asn
ENST00000544791.1:c.1140G>T	ENSP00000444259.1:p.Lys380Asn
ENST00000545968.5:c.1140G>T	ENSP00000442795.1:p.Lys380Asn
NM_000256.3:c.1140G>T , LRG_386t1:c.1140G>T MANE Select	NP_000247.2:p.Lys380Asn
XM_011520117.1:c.1122G>T	XP_011518419.1:p.Lys374Asn
XM_011520118.1:c.1140G>T	XP_011518420.1:p.Lys380Asn