Canonical Allele Identifier: CA937666281
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095879625
gnomAD v3: 11-47333680-T-TG
gnomAD v4: 11-47333680-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333681dup , CM000673.2:g.47333681dup GRCh38
NC_000011.9:g.47355232dup , CM000673.1:g.47355232dup GRCh37
NC_000011.8:g.47311808dup NCBI36
NG_007667.1:g.24022dup , LRG_386:g.24022dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3066dup MANE Select ENSP00000442795.1:p.Asn1023GlnfsTer28
ENST00000256993.8:c.3066dup ENSP00000256993.5:p.Asn1023GlnfsTer28
ENST00000399249.6:c.3066dup ENSP00000382193.2:p.Asn1023GlnfsTer28
ENST00000545968.5:c.3066dup ENSP00000442795.1:p.Asn1023GlnfsTer28
NM_000256.3:c.3066dup , LRG_386t1:c.3066dup MANE Select NP_000247.2:p.Asn1023GlnfsTer28
XM_011520117.1:c.3048dup XP_011518419.1:p.Asn1017GlnfsTer28
XM_011520118.1:c.2985dup XP_011518420.1:p.Asn996GlnfsTer28
Search 100 bp 5'
Search 100 bp 3'