Canonical Allele Identifier: CA380332098

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47346348-C-A
• MyVariant Identifiers: chr11:g.47367899C>A (hg19) ; chr11:g.47346348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346348C>A , CM000673.2:g.47346348C>A	GRCh38
NC_000011.9:g.47367899C>A , CM000673.1:g.47367899C>A	GRCh37
NC_000011.8:g.47324475C>A	NCBI36
NG_007667.1:g.11355G>T , LRG_386:g.11355G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.949G>T MANE Select	ENSP00000442795.1:p.Ala317Ser
ENST00000256993.8:c.949G>T	ENSP00000256993.5:p.Ala317Ser
ENST00000399249.6:c.949G>T	ENSP00000382193.2:p.Ala317Ser
ENST00000544791.1:c.949G>T	ENSP00000444259.1:p.Ala317Ser
ENST00000545968.5:c.949G>T	ENSP00000442795.1:p.Ala317Ser
NM_000256.3:c.949G>T , LRG_386t1:c.949G>T MANE Select	NP_000247.2:p.Ala317Ser
XM_011520117.1:c.931G>T	XP_011518419.1:p.Ala311Ser
XM_011520118.1:c.949G>T	XP_011518420.1:p.Ala317Ser