Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

ALLELE REGISTRY - SERVICE INTERRUPTION2024-08-10T11:00:00-0500 — 2024-08-10T15:00:00-0500
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.

ClinGen Allele Registry

Canonical Allele Identifier: CA221683010

Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs560516421

gnomAD v2: 11-47355402-C-G

gnomAD v3: 11-47333851-C-G

gnomAD v4: 11-47333851-C-G

MyVariant Identifiers: chr11:g.47355402C>G (hg19) chr11:g.47333851C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333851C>G , CM000673.2:g.47333851C>G	GRCh38
NC_000011.9:g.47355402C>G , CM000673.1:g.47355402C>G	GRCh37
NC_000011.8:g.47311978C>G	NCBI36
NG_007667.1:g.23852G>C , LRG_386:g.23852G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2994+71G>C MANE Select	ENSP00000442795.1:n.2994+71G>C
ENST00000256993.8:c.2994+71G>C	ENSP00000256993.5:n.2994+71G>C
ENST00000399249.6:c.2994+71G>C	ENSP00000382193.2:n.2994+71G>C
ENST00000545968.5:c.2994+71G>C	ENSP00000442795.1:n.2994+71G>C
NM_000256.3:c.2994+71G>C , LRG_386t1:c.2994+71G>C MANE Select	NP_000247.2:n.2994+71G>C
XM_011520117.1:c.2976+71G>C	XP_011518419.1:n.2976+71G>C
XM_011520118.1:c.2913+71G>C	XP_011518420.1:n.2913+71G>C