Canonical Allele Identifier: CA079278
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1943395
ClinVar RCV Id: RCV002662914
dbSNP Id: rs748263197
ExAC: 11:47354772 T / C
gnomAD v2: 11-47354772-T-C
gnomAD v4: 11-47333221-T-C
MyVariant Identifiers: chr11:g.47354772T>C (hg19) chr11:g.47333221T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333221T>C , CM000673.2:g.47333221T>C GRCh38
NC_000011.9:g.47354772T>C , CM000673.1:g.47354772T>C GRCh37
NC_000011.8:g.47311348T>C NCBI36
NG_007667.1:g.24482A>G , LRG_386:g.24482A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3303A>G MANE Select ENSP00000442795.1:p.Thr1101=
ENST00000256993.8:c.3303A>G ENSP00000256993.5:p.Thr1101=
ENST00000399249.6:c.3303A>G ENSP00000382193.2:p.Thr1101=
ENST00000545968.5:c.3303A>G ENSP00000442795.1:p.Thr1101=
NM_000256.3:c.3303A>G , LRG_386t1:c.3303A>G MANE Select NP_000247.2:p.Thr1101=
XM_011520117.1:c.3285A>G XP_011518419.1:p.Thr1095=
XM_011520118.1:c.3222A>G XP_011518420.1:p.Thr1074=
Search 100 bp 5'
Search 100 bp 3'