Canonical Allele Identifier: CA078660

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 926688
• ClinVar RCV Id: RCV001189460 ; RCV003770133
• dbSNP Id: rs776351251
• ExAC: 11:47359309 T / C
• gnomAD v2: 11-47359309-T-C
• gnomAD v3: 11-47337758-T-C
• gnomAD v4: 11-47337758-T-C
• MyVariant Identifiers: chr11:g.47359309T>C (hg19) ; chr11:g.47337758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337758T>C , CM000673.2:g.47337758T>C	GRCh38
NC_000011.9:g.47359309T>C , CM000673.1:g.47359309T>C	GRCh37
NC_000011.8:g.47315885T>C	NCBI36
NG_007667.1:g.19945A>G , LRG_386:g.19945A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2345A>G MANE Select	ENSP00000442795.1:p.Asn782Ser
ENST00000256993.8:c.2345A>G	ENSP00000256993.5:p.Asn782Ser
ENST00000399249.6:c.2345A>G	ENSP00000382193.2:p.Asn782Ser
ENST00000544791.1:c.2345A>G	ENSP00000444259.1:p.Asn782Ser
ENST00000545968.5:c.2345A>G	ENSP00000442795.1:p.Asn782Ser
NM_000256.3:c.2345A>G , LRG_386t1:c.2345A>G MANE Select	NP_000247.2:p.Asn782Ser
XM_011520117.1:c.2327A>G	XP_011518419.1:p.Asn776Ser
XM_011520118.1:c.2264A>G	XP_011518420.1:p.Asn755Ser