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.

Canonical Allele Identifier: CA613317701

Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs1196199795

gnomAD v2: 14-23885059-G-C

gnomAD v4: 14-23415850-G-C

MyVariant Identifiers: chr14:g.23885059G>C (hg19) chr14:g.23415850G>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415850G>C , CM000676.2:g.23415850G>C	GRCh38
NC_000014.8:g.23885059G>C , CM000676.1:g.23885059G>C	GRCh37
NC_000014.7:g.22954899G>C	NCBI36
NG_007884.1:g.24812C>G , LRG_384:g.24812C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4954-18C>G (MYH7) MANE Select	ENSP00000347507.3:n.4954-18C>G
ENST00000355349.3:c.4954-18C>G (MYH7)	ENSP00000347507.3:n.4954-18C>G
NM_000257.3:c.4954-18C>G (MYH7)	NP_000248.2:n.4954-18C>G
NR_126491.1:n.261+21G>C (MHRT)
XM_017021340.1:c.4954-18C>G (MYH7)	XP_016876829.1:n.4954-18C>G
NM_000257.4:c.4954-18C>G (MYH7) MANE Select	NP_000248.2:n.4954-18C>G

Search 100 bp 5'

Search 100 bp 3'