Canonical Allele Identifier: CA937666123

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095879322
• gnomAD v3: 11-47333498-C-CCA
• gnomAD v4: 11-47333498-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333499_47333500dup , CM000673.2:g.47333499_47333500dup	GRCh38
NC_000011.9:g.47355050_47355051dup , CM000673.1:g.47355050_47355051dup	GRCh37
NC_000011.8:g.47311626_47311627dup	NCBI36
NG_007667.1:g.24203_24204dup , LRG_386:g.24203_24204dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3190+57_3190+58dup MANE Select	ENSP00000442795.1:n.3190+57_3190+58dup
ENST00000256993.8:c.3190+57_3190+58dup	ENSP00000256993.5:n.3190+57_3190+58dup
ENST00000399249.6:c.3190+57_3190+58dup	ENSP00000382193.2:n.3190+57_3190+58dup
ENST00000545968.5:c.3190+57_3190+58dup	ENSP00000442795.1:n.3190+57_3190+58dup
NM_000256.3:c.3190+57_3190+58dup , LRG_386t1:c.3190+57_3190+58dup MANE Select	NP_000247.2:n.3190+57_3190+58dup
XM_011520117.1:c.3172+57_3172+58dup	XP_011518419.1:n.3172+57_3172+58dup
XM_011520118.1:c.3109+57_3109+58dup	XP_011518420.1:n.3109+57_3109+58dup