Canonical Allele Identifier: CA380315693
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2448109
ClinVar RCV Id: RCV003168181
dbSNP Id: rs2095879726
gnomAD v3: 11-47333746-G-T
gnomAD v4: 11-47333746-G-T
MyVariant Identifiers: chr11:g.47355297G>T (hg19) chr11:g.47333746G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333746G>T , CM000673.2:g.47333746G>T GRCh38
NC_000011.9:g.47355297G>T , CM000673.1:g.47355297G>T GRCh37
NC_000011.8:g.47311873G>T NCBI36
NG_007667.1:g.23957C>A , LRG_386:g.23957C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3001C>A MANE Select ENSP00000442795.1:p.Pro1001Thr
ENST00000256993.8:c.3001C>A ENSP00000256993.5:p.Pro1001Thr
ENST00000399249.6:c.3001C>A ENSP00000382193.2:p.Pro1001Thr
ENST00000545968.5:c.3001C>A ENSP00000442795.1:p.Pro1001Thr
NM_000256.3:c.3001C>A , LRG_386t1:c.3001C>A MANE Select NP_000247.2:p.Pro1001Thr
XM_011520117.1:c.2983C>A XP_011518419.1:p.Pro995Thr
XM_011520118.1:c.2920C>A XP_011518420.1:p.Pro974Thr
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