Canonical Allele Identifier: CA389037825
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 2773897
ClinVar RCV Id: RCV003532660
dbSNP Id: rs1892204280
MyVariant Identifiers: chr14:g.23885465C>G (hg19) chr14:g.23416256C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416256C>G , CM000676.2:g.23416256C>G GRCh38
NC_000014.8:g.23885465C>G , CM000676.1:g.23885465C>G GRCh37
NC_000014.7:g.22955305C>G NCBI36
NG_007884.1:g.24406G>C , LRG_384:g.24406G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4701G>C (MYH7) MANE Select ENSP00000347507.3:p.Gln1567His
ENST00000355349.3:c.4701G>C (MYH7) ENSP00000347507.3:p.Gln1567His
NM_000257.3:c.4701G>C (MYH7) NP_000248.2:p.Gln1567His
NR_126491.1:n.517C>G (MHRT)
XM_017021340.1:c.4701G>C (MYH7) XP_016876829.1:p.Gln1567His
NM_000257.4:c.4701G>C (MYH7) MANE Select NP_000248.2:p.Gln1567His
Search 100 bp 5'
Search 100 bp 3'