Canonical Allele Identifier: CA013397

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42681
• ClinVar RCV Id: RCV000035554 ; RCV000201897 ; RCV000816293 ; RCV001179299 ; RCV002223767
• dbSNP Id: rs397516000
• gnomAD v2: 11-47355233-C-T
• gnomAD v4: 11-47333682-C-T
• MyVariant Identifiers: chr11:g.47355233C>T (hg19) ; chr11:g.47333682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333682C>T , CM000673.2:g.47333682C>T	GRCh38
NC_000011.9:g.47355233C>T , CM000673.1:g.47355233C>T	GRCh37
NC_000011.8:g.47311809C>T	NCBI36
NG_007667.1:g.24021G>A , LRG_386:g.24021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3065G>A MANE Select	ENSP00000442795.1:p.Arg1022His
ENST00000256993.8:c.3065G>A	ENSP00000256993.5:p.Arg1022His
ENST00000399249.6:c.3065G>A	ENSP00000382193.2:p.Arg1022His
ENST00000545968.5:c.3065G>A	ENSP00000442795.1:p.Arg1022His
NM_000256.3:c.3065G>A , LRG_386t1:c.3065G>A MANE Select	NP_000247.2:p.Arg1022His
XM_011520117.1:c.3047G>A	XP_011518419.1:p.Arg1016His
XM_011520118.1:c.2984G>A	XP_011518420.1:p.Arg995His