Canonical Allele Identifier: CA009719

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42502
• ClinVar RCV Id: RCV000035367 ; RCV000157306 ; RCV001344496 ; RCV001699104 ; RCV003390722
• dbSNP Id: rs397515884
• ExAC: 11:47367809 C / T
• gnomAD v2: 11-47367809-C-T
• gnomAD v3: 11-47346258-C-T
• gnomAD v4: 11-47346258-C-T
• MyVariant Identifiers: chr11:g.47367809C>T (hg19) ; chr11:g.47346258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346258C>T , CM000673.2:g.47346258C>T	GRCh38
NC_000011.9:g.47367809C>T , CM000673.1:g.47367809C>T	GRCh37
NC_000011.8:g.47324385C>T	NCBI36
NG_007667.1:g.11445G>A , LRG_386:g.11445G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1039G>A MANE Select	ENSP00000442795.1:p.Gly347Ser
ENST00000256993.8:c.1039G>A	ENSP00000256993.5:p.Gly347Ser
ENST00000399249.6:c.1039G>A	ENSP00000382193.2:p.Gly347Ser
ENST00000544791.1:c.1039G>A	ENSP00000444259.1:p.Gly347Ser
ENST00000545968.5:c.1039G>A	ENSP00000442795.1:p.Gly347Ser
NM_000256.3:c.1039G>A , LRG_386t1:c.1039G>A MANE Select	NP_000247.2:p.Gly347Ser
XM_011520117.1:c.1021G>A	XP_011518419.1:p.Gly341Ser
XM_011520118.1:c.1039G>A	XP_011518420.1:p.Gly347Ser