Canonical Allele Identifier: CA380312131
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 566170
ClinVar RCV Id: RCV000685914
dbSNP Id: rs1299079662
MyVariant Identifiers: chr11:g.47354115A>G (hg19) chr11:g.47332564A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332564A>G , CM000673.2:g.47332564A>G GRCh38
NC_000011.9:g.47354115A>G , CM000673.1:g.47354115A>G GRCh37
NC_000011.8:g.47310691A>G NCBI36
NG_007667.1:g.25139T>C , LRG_386:g.25139T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3627+2T>C MANE Select ENSP00000442795.1:n.3627+2T>C
ENST00000256993.8:c.3627+2T>C ENSP00000256993.5:n.3627+2T>C
ENST00000399249.6:c.3627+2T>C ENSP00000382193.2:n.3627+2T>C
ENST00000545968.5:c.3627+2T>C ENSP00000442795.1:n.3627+2T>C
NM_000256.3:c.3627+2T>C , LRG_386t1:c.3627+2T>C MANE Select NP_000247.2:n.3627+2T>C
XM_011520117.1:c.3609+2T>C XP_011518419.1:n.3609+2T>C
XM_011520118.1:c.3546+2T>C XP_011518420.1:n.3546+2T>C
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