Canonical Allele Identifier: CA599061094

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1301251488
• gnomAD v2: 11-47374204-G-C
• gnomAD v4: 11-47352653-G-C
• MyVariant Identifiers: chr11:g.47374204G>C (hg19) ; chr11:g.47352653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47352653G>C , CM000673.2:g.47352653G>C	GRCh38
NC_000011.9:g.47374204G>C , CM000673.1:g.47374204G>C	GRCh37
NC_000011.8:g.47330780G>C	NCBI36
NG_007667.1:g.5050C>G , LRG_386:g.5050C>G

Transcript Alleles

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