Canonical Allele Identifier: CA380312186
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1183967
ClinVar RCV Id: RCV001541898 RCV001882609
dbSNP Id: rs2142849872
gnomAD v4: 11-47332571-G-A
MyVariant Identifiers: chr11:g.47354122G>A (hg19) chr11:g.47332571G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332571G>A , CM000673.2:g.47332571G>A GRCh38
NC_000011.9:g.47354122G>A , CM000673.1:g.47354122G>A GRCh37
NC_000011.8:g.47310698G>A NCBI36
NG_007667.1:g.25132C>T , LRG_386:g.25132C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3622C>T MANE Select ENSP00000442795.1:p.Pro1208Ser
ENST00000256993.8:c.3622C>T ENSP00000256993.5:p.Pro1208Ser
ENST00000399249.6:c.3622C>T ENSP00000382193.2:p.Pro1208Ser
ENST00000545968.5:c.3622C>T ENSP00000442795.1:p.Pro1208Ser
NM_000256.3:c.3622C>T , LRG_386t1:c.3622C>T MANE Select NP_000247.2:p.Pro1208Ser
XM_011520117.1:c.3604C>T XP_011518419.1:p.Pro1202Ser
XM_011520118.1:c.3541C>T XP_011518420.1:p.Pro1181Ser
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