Canonical Allele Identifier: CA221683019

Gene: MYBPC3

Linked Data

• dbSNP Id: rs530805023
• gnomAD v2: 11-47355426-A-G
• gnomAD v3: 11-47333875-A-G
• gnomAD v4: 11-47333875-A-G
• MyVariant Identifiers: chr11:g.47355426A>G (hg19) ; chr11:g.47333875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333875A>G , CM000673.2:g.47333875A>G	GRCh38
NC_000011.9:g.47355426A>G , CM000673.1:g.47355426A>G	GRCh37
NC_000011.8:g.47312002A>G	NCBI36
NG_007667.1:g.23828T>C , LRG_386:g.23828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2994+47T>C MANE Select	ENSP00000442795.1:n.2994+47T>C
ENST00000256993.8:c.2994+47T>C	ENSP00000256993.5:n.2994+47T>C
ENST00000399249.6:c.2994+47T>C	ENSP00000382193.2:n.2994+47T>C
ENST00000545968.5:c.2994+47T>C	ENSP00000442795.1:n.2994+47T>C
NM_000256.3:c.2994+47T>C , LRG_386t1:c.2994+47T>C MANE Select	NP_000247.2:n.2994+47T>C
XM_011520117.1:c.2976+47T>C	XP_011518419.1:n.2976+47T>C
XM_011520118.1:c.2913+47T>C	XP_011518420.1:n.2913+47T>C