Canonical Allele Identifier: CA380331208

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1307939
• ClinVar RCV Id: RCV001772794
• dbSNP Id: rs2142864171
• gnomAD v4: 11-47346254-A-G
• MyVariant Identifiers: chr11:g.47367805A>G (hg19) ; chr11:g.47346254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346254A>G , CM000673.2:g.47346254A>G	GRCh38
NC_000011.9:g.47367805A>G , CM000673.1:g.47367805A>G	GRCh37
NC_000011.8:g.47324381A>G	NCBI36
NG_007667.1:g.11449T>C , LRG_386:g.11449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1043T>C MANE Select	ENSP00000442795.1:p.Met348Thr
ENST00000256993.8:c.1043T>C	ENSP00000256993.5:p.Met348Thr
ENST00000399249.6:c.1043T>C	ENSP00000382193.2:p.Met348Thr
ENST00000544791.1:c.1043T>C	ENSP00000444259.1:p.Met348Thr
ENST00000545968.5:c.1043T>C	ENSP00000442795.1:p.Met348Thr
NM_000256.3:c.1043T>C , LRG_386t1:c.1043T>C MANE Select	NP_000247.2:p.Met348Thr
XM_011520117.1:c.1025T>C	XP_011518419.1:p.Met342Thr
XM_011520118.1:c.1043T>C	XP_011518420.1:p.Met348Thr