Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

ClinGen Allele Registry

Canonical Allele Identifier: CA915946997

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 751704

ClinVar RCV Id: RCV001440456

dbSNP Id: rs1595081459

gnomAD v4: 14-23423732-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423732C>A , CM000676.2:g.23423732C>A	GRCh38
NC_000014.8:g.23892941C>A , CM000676.1:g.23892941C>A	GRCh37
NC_000014.7:g.22962781C>A	NCBI36
NG_007884.1:g.16930G>T , LRG_384:g.16930G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2923-9G>T MANE Select	ENSP00000347507.3:n.2923-9G>T
ENST00000355349.3:c.2923-9G>T	ENSP00000347507.3:n.2923-9G>T
NM_000257.3:c.2923-9G>T	NP_000248.2:n.2923-9G>T
XR_245686.3:n.3029-9G>T
XM_017021340.1:c.2923-9G>T	XP_016876829.1:n.2923-9G>T
NM_000257.4:c.2923-9G>T MANE Select	NP_000248.2:n.2923-9G>T