Canonical Allele Identifier: CA599374211

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1472196819
• gnomAD v2: 11-47359170-G-A
• MyVariant Identifiers: chr11:g.47359170G>A (hg19) ; chr11:g.47337619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337619G>A , CM000673.2:g.47337619G>A	GRCh38
NC_000011.9:g.47359170G>A , CM000673.1:g.47359170G>A	GRCh37
NC_000011.8:g.47315746G>A	NCBI36
NG_007667.1:g.20084C>T , LRG_386:g.20084C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2414-40C>T MANE Select	ENSP00000442795.1:n.2414-40C>T
ENST00000256993.8:c.2414-40C>T	ENSP00000256993.5:n.2414-40C>T
ENST00000399249.6:c.2414-40C>T	ENSP00000382193.2:n.2414-40C>T
ENST00000544791.1:c.2413+71C>T	ENSP00000444259.1:n.2413+71C>T
ENST00000545968.5:c.2414-40C>T	ENSP00000442795.1:n.2414-40C>T
NM_000256.3:c.2414-40C>T , LRG_386t1:c.2414-40C>T MANE Select	NP_000247.2:n.2414-40C>T
XM_011520117.1:c.2396-40C>T	XP_011518419.1:n.2396-40C>T
XM_011520118.1:c.2333-40C>T	XP_011518420.1:n.2333-40C>T