Canonical Allele Identifier: CA599374229

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1395690711
• gnomAD v2: 11-47364798-G-C
• MyVariant Identifiers: chr11:g.47364798G>C (hg19) ; chr11:g.47343247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343247G>C , CM000673.2:g.47343247G>C	GRCh38
NC_000011.9:g.47364798G>C , CM000673.1:g.47364798G>C	GRCh37
NC_000011.8:g.47321374G>C	NCBI36
NG_007667.1:g.14456C>G , LRG_386:g.14456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1226+13C>G MANE Select	ENSP00000442795.1:n.1226+13C>G
ENST00000256993.8:c.1224-99C>G	ENSP00000256993.5:n.1224-99C>G
ENST00000399249.6:c.1226+13C>G	ENSP00000382193.2:n.1226+13C>G
ENST00000544791.1:c.1226+13C>G	ENSP00000444259.1:n.1226+13C>G
ENST00000545968.5:c.1226+13C>G	ENSP00000442795.1:n.1226+13C>G
NM_000256.3:c.1226+13C>G , LRG_386t1:c.1226+13C>G MANE Select	NP_000247.2:n.1226+13C>G
XM_011520117.1:c.1208+13C>G	XP_011518419.1:n.1208+13C>G
XM_011520118.1:c.1226+13C>G	XP_011518420.1:n.1226+13C>G