Canonical Allele Identifier: CA474429410
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 922606
ClinVar RCV Id: RCV001182772 RCV002068332 RCV002429818
dbSNP Id: rs1461148074
gnomAD v2: 11-47364663-G-T
gnomAD v4: 11-47343112-G-T
MyVariant Identifiers: chr11:g.47364663G>T (hg19) chr11:g.47343112G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343112G>T , CM000673.2:g.47343112G>T GRCh38
NC_000011.9:g.47364663G>T , CM000673.1:g.47364663G>T GRCh37
NC_000011.8:g.47321239G>T NCBI36
NG_007667.1:g.14591C>A , LRG_386:g.14591C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1260C>A MANE Select ENSP00000442795.1:p.Thr420=
ENST00000256993.8:c.1260C>A ENSP00000256993.5:p.Thr420=
ENST00000399249.6:c.1260C>A ENSP00000382193.2:p.Thr420=
ENST00000544791.1:c.1260C>A ENSP00000444259.1:p.Thr420=
ENST00000545968.5:c.1260C>A ENSP00000442795.1:p.Thr420=
NM_000256.3:c.1260C>A , LRG_386t1:c.1260C>A MANE Select NP_000247.2:p.Thr420=
XM_011520117.1:c.1242C>A XP_011518419.1:p.Thr414=
XM_011520118.1:c.1260C>A XP_011518420.1:p.Thr420=
Search 100 bp 5'
Search 100 bp 3'