Canonical Allele Identifier: CA380325243

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 922673
• ClinVar RCV Id: RCV001182860 ; RCV004008332
• dbSNP Id: rs2095890036
• gnomAD v4: 11-47342707-A-G
• MyVariant Identifiers: chr11:g.47364258A>G (hg19) ; chr11:g.47342707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342707A>G , CM000673.2:g.47342707A>G	GRCh38
NC_000011.9:g.47364258A>G , CM000673.1:g.47364258A>G	GRCh37
NC_000011.8:g.47320834A>G	NCBI36
NG_007667.1:g.14996T>C , LRG_386:g.14996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1495T>C MANE Select	ENSP00000442795.1:p.Phe499Leu
ENST00000256993.8:c.1495T>C	ENSP00000256993.5:p.Phe499Leu
ENST00000399249.6:c.1495T>C	ENSP00000382193.2:p.Phe499Leu
ENST00000544791.1:c.1495T>C	ENSP00000444259.1:p.Phe499Leu
ENST00000545968.5:c.1495T>C	ENSP00000442795.1:p.Phe499Leu
NM_000256.3:c.1495T>C , LRG_386t1:c.1495T>C MANE Select	NP_000247.2:p.Phe499Leu
XM_011520117.1:c.1477T>C	XP_011518419.1:p.Phe493Leu
XM_011520118.1:c.1495T>C	XP_011518420.1:p.Phe499Leu