Canonical Allele Identifier: CA221683094

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 518241
• ClinVar RCV Id: RCV000600797 ; RCV001700238 ; RCV002498993 ; RCV002438611 ; RCV002531732
• dbSNP Id: rs954096716
• gnomAD v3: 11-47333989-G-C
• gnomAD v4: 11-47333989-G-C
• MyVariant Identifiers: chr11:g.47355540G>C (hg19) ; chr11:g.47333989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333989G>C , CM000673.2:g.47333989G>C	GRCh38
NC_000011.9:g.47355540G>C , CM000673.1:g.47355540G>C	GRCh37
NC_000011.8:g.47312116G>C	NCBI36
NG_007667.1:g.23714C>G , LRG_386:g.23714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2927C>G MANE Select	ENSP00000442795.1:p.Pro976Arg
ENST00000256993.8:c.2927C>G	ENSP00000256993.5:p.Pro976Arg
ENST00000399249.6:c.2927C>G	ENSP00000382193.2:p.Pro976Arg
ENST00000545968.5:c.2927C>G	ENSP00000442795.1:p.Pro976Arg
NM_000256.3:c.2927C>G , LRG_386t1:c.2927C>G MANE Select	NP_000247.2:p.Pro976Arg
XM_011520117.1:c.2909C>G	XP_011518419.1:p.Pro970Arg
XM_011520118.1:c.2846C>G	XP_011518420.1:p.Pro949Arg